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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 alanine transaminase level	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.43×10^-09
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
increased circulating aspartate transaminase level	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	8.65×10^-18
increased bone mineral density	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.06×10^-16
abnormal optic disk morphology	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	9.69×10^-06
short tibia	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.34×10^-12
polycystic kidney	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
decreased prepulse inhibition	Plekhm1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.85×10^-16
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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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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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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Histopathology

Images

5 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 (692 diseases)

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

Disease	Matching phenotypes	Source
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107

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

Disease	Matching phenotypes	Source
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Connective tissue nevi, Joint stiffness, Osteopoikilosis, Flexion contractu...	OMIM:166700
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Gen...	OMIM:184260
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, Generalized osteosclerosis, Ab...	ORPHA:2790
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, Facial palsy, Optic...	ORPHA:3152
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Renal hypoplasia/aplasia, Micrognathia, Abnormal sacrum morphology,...	ORPHA:1988
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Melorheostosis With Osteopoikilosis	Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the...	ORPHA:1879
Osteomesopyknosis	Low back pain, Increased bone mineral density	OMIM:166450
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column	OMIM:602475
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Hyperostosis Corticalis Generalisata	Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology...	ORPHA:3416
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Optic atrophy, Facial palsy, Craniosynostosis	ORPHA:178377
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Claw hand deformity, Optic atrophy, Hammertoe, Pes cavus	OMIM:618511
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Ovoid vertebral bodies, Micrognathia, Coxa va...	ORPHA:163649
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Ribose 5-Phosphate Isomerase Deficiency	Increased level of ribose in urine, Increased level of ribitol in urine, Increased level of xylit...	OMIM:608611
Meckel Syndrome 13	Flexion contracture, Retinopathy, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Axial Osteomalacia	Increased bone mineral density, Renal cyst, Osteomalacia, Elevated circulating creatine kinase co...	OMIM:109130
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia, Increased circulating very long-chain fatty ac...	OMIM:614859
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs, Ulnar bowing, Preax...	OMIM:617866
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Pedal edema	ORPHA:75325
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e...	ORPHA:1782
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Fractures of the long bones, General...	OMIM:166600
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, ...	OMIM:620366
Bardet-Biedl Syndrome 10	Renal insufficiency, Retinal dystrophy, Renal cyst, Polydactyly, Rod-cone dystrophy	OMIM:615987
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Diastrophic Dysplasia	Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo...	ORPHA:628
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Short humeru...	OMIM:239000
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Fe...	OMIM:620076
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Short ne...	OMIM:263210
Nephronophthisis 14	Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis	OMIM:614844
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Abnormality of the urinary system,...	ORPHA:2204
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop...	OMIM:611490
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra...	OMIM:259700
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Increased circulat...	ORPHA:356961
Albers-Schönberg Osteopetrosis	Osteomyelitis, Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Generalized osteoscle...	ORPHA:53
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short digit, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wideni...	OMIM:613091
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Melorheostosis	Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Atypical scarring of skin,...	ORPHA:2485
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ...	OMIM:607634
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Rhyns Syndrome	Osteopenia, Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnor...	ORPHA:140976
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Polydactyly, Rod...	OMIM:615993
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Meckel Syndrome, Type 8	Short neck, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Hyperechogenic kidneys...	OMIM:613885
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Optic atrophy, Osteoporosis, Joint hyperflexibility, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, Hypoplasia ...	OMIM:200980
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Meckel Syndrome, Type 11	Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Renal cyst, Dislocated radial head,...	OMIM:102500
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Coxa vara, Enthesitis, Tibial bowing, Hypocalcemic tetany, Hypoph...	ORPHA:289176
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves...	OMIM:617271
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra...	OMIM:146300
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Distal Triplication 15Q	Arachnodactyly, Abnormality of the kidney, Craniosynostosis, Micrognathia, Kyphosis, Flexion cont...	ORPHA:314588
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ...	ORPHA:89936
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur...	OMIM:608836
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Scoliosis, Rod-co...	OMIM:616394
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Stuve-Wiedemann Syndrome 1	Micrognathia, Short neck, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, S...	OMIM:601559
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Proximal femoral metaphyseal irregularity, Optic atrophy, Co...	OMIM:602271
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Tyrosinemia Type 1	Splenomegaly, Rickets of the lower limbs	ORPHA:882
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, M...	OMIM:608940
Lamb-Shaffer Syndrome	Pes planus, Overlapping toe, Long fingers, Vertebral clefting, Optic atrophy, Scoliosis, Clinodac...	OMIM:616803
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Polycystic kidney dyspl...	OMIM:618061
Bardet-Biedl Syndrome 4	Syndactyly, Abnormality of the kidney, Renal cyst, Polydactyly, Rod-cone dystrophy, Retinal degen...	OMIM:615982
Autosomal Recessive Spastic Paraplegia Type 45	Optic atrophy, Flexion contracture of toe, Ankle flexion contracture, Knee flexion contracture	ORPHA:320396
Trisomy 17P	Hypoplasia of penis, Urethral valve, Talipes, Micrognathia, Tapered finger, Short neck, Urethral ...	ORPHA:261290
Peroxisome Biogenesis Disorder 2A (Zellweger)	Micrognathia, Metatarsus adductus, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, ...	OMIM:214110
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Hypophosphatemic Rickets, X-Linked Recessive	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300554
Congenital Disorder Of Glycosylation, Type Ig	Retinal detachment, Short humerus, Short femur, Hypospadias, Rhizomelia, Sandal gap, Hypoplasia o...	OMIM:607143
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Atelosteogenesis Type Iii	Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Micrognathia, S...	ORPHA:56305
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Micropenis, Dysplas...	OMIM:134780
Epidermal Nevus Syndrome	Osteopenia, Thoracolumbar scoliosis, Spinal canal stenosis, Polycystic kidney dysplasia, Lipoma	ORPHA:35125
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Hip dislocation, Polycystic kidney dysplasia, Short neck	OMIM:608776
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Hyperlordosis, Elevated circulating acylcarni...	ORPHA:26791
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Diaphanospondylodysostosis	Missing ribs, Short neck, Narrow pelvis bone, Multiple renal cysts, Absent or minimally ossified ...	ORPHA:66637
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Dent Disease 1	Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Nephrocalcinosis, Tibial bow...	OMIM:300009
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Camurati-Engelmann Disease	Reduced subcutaneous adipose tissue, Increased bone mineral density, Cranial nerve compression, D...	OMIM:131300
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
15q26 overgrowth syndrome	Long toe, Renal agenesis, Camptodactyly of finger, Craniosynostosis, Abnormality of the kidney, M...	DECIPHER:81
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Pycnodysostosis	Micrognathia, Generalized osteosclerosis, Hypoplastic iliac wing, Joint laxity, Increased bone mi...	ORPHA:763
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Renal cyst, Increased total bilirubin	OMIM:174050
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Increased circulating thyroglobulin level, Thoracolumbar scoliosis, Sagittal craniosy...	OMIM:610199
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Osteopetrosis, Autosomal Recessive 2	Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Cranial ...	OMIM:259710
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Micrognathia, Conjugated hyperbilirubinemia, Metatarsus adductus, Optic nerve dyspla...	OMIM:614866
Hypocalcemic Vitamin D-Resistant Rickets	Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolysis, Nephrolithiasis, Genu valgu...	ORPHA:93160
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Joint laxity, Multicystic kidney dysplas...	OMIM:120330
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Op...	OMIM:618476
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Abnormal dental enamel morphology, Micr...	ORPHA:1798
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna...	OMIM:619879
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Choroidal neovascularization,...	OMIM:259900
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Joubert Syndrome 18	Joint laxity, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphoscoliosis, Ho...	OMIM:614815
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preax...	OMIM:210710
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Verheij Syndrome	Joint laxity, Vertebral fusion, Renal agenesis, Optic nerve hypoplasia, Short neck, Hip dislocati...	OMIM:615583
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Facial palsy, Micrognathia, Hyperlordosis, High iliac wing, Osteo...	ORPHA:2780
Hanac Syndrome	Retinal vascular tortuosity, Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Omphalocele, Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial ...	OMIM:616300
Peroxisome Biogenesis Disorder 6A (Zellweger)	Epiphyseal stippling, Renal cyst	OMIM:614870
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Micromelia, Micrognathia, Short neck, Coxa va...	ORPHA:800
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia	OMIM:258865
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Facial palsy, Osteopetrosis, Abnormal metaphysis morphology, Abnormal ...	ORPHA:1522
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shorte...	OMIM:263520
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
Juvenile Paget Disease	Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Cranial hyper...	ORPHA:2801
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Hypoplastic iliac wing, Abnor...	ORPHA:93315
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Ectopic kidney, Short neck, Optic atrophy, Short metatarsal, Cone-s...	OMIM:613328
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Optic atrophy, Diaphyseal thickening	ORPHA:1513
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Osteomalacia,...	ORPHA:198
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic cysts, Multipl...	OMIM:263200
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Joint stiffness, Micrognathia, Vertebr...	ORPHA:1166
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:600081
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Bone spicule pigmentation of the retina, Short fo...	OMIM:615994
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Short ...	ORPHA:2658
Branchiootorenal Syndrome 1	Renal malrotation, Congenital hip dislocation, Facial palsy, Unilateral renal agenesis, Renal ste...	OMIM:113650
Craniometaphyseal Dysplasia, Autosomal Dominant	Facial palsy, Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull b...	OMIM:123000
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varum, Rhizomelia, Du...	OMIM:156550
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Tooth abscess, Rickets, Osteomalacia	ORPHA:89937
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re...	ORPHA:1475
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck,...	ORPHA:79444
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Elevated circulating creatine kinase concentration, Retinal arteriolar tortu...	OMIM:611773
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Cortical subperiosteal resorption of humeral metaphys...	ORPHA:94089
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Phelan-Mcdermid Syndrome	Sacral dimple, Abnormality of the kidney, Micrognathia, 2-3 toe syndactyly, Large hands, Clinodac...	OMIM:606232
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume	OMIM:611590
Arima Syndrome	Retinal dystrophy, Proteinuria, Polyuria, Postaxial hand polydactyly, Optic atrophy, Stage 5 chro...	OMIM:243910
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Talipes equ...	OMIM:620306
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Joubert Syndrome 7	Retinal dystrophy, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney dise...	OMIM:611560
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v...	ORPHA:3320
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowin...	OMIM:241530
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Cleidocranial Dysplasia 1	Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas...	OMIM:119600
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Pycnodysostosis	Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt...	OMIM:265800
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Isolated Polycystic Liver Disease	Back pain, Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesi...	OMIM:236500
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna	OMIM:231095
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Flexion contracture, ...	ORPHA:77297
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Micromelia, Aplastic clavicle, Postaxial polydactyly, Short neck...	OMIM:616546
Congenital Disorder Of Glycosylation, Type Iu	Elevated circulating creatine kinase concentration, Micrognathia, Optic atrophy, Congenital contr...	OMIM:615042
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Kyphosis, Flexion contracture, Optic atrophy, Absent Achilles reflex, Ankle cl...	OMIM:609541
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ...	ORPHA:93346
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocal...	ORPHA:36913
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Proteinuria, Kyphosis, Osteoarthritis, Osteolysis, Pe...	ORPHA:77259
Pseudohypoparathyroidism Type 1A	Short neck, Short metatarsal, Reduced bone mineral density, Hypocalcemia, Hypocalcemic tetany, Br...	ORPHA:79443
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hypop...	OMIM:208500
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Spondylocarpotarsal Synostosis Syndrome	Short neck, Renal cyst, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Clinodactyly of the ...	OMIM:201000
Primary Hyperoxaluria	Optic disc pallor, Hyperoxaluria, Choroidal neovascularization, Recurrent fractures, Aciduria, Ca...	ORPHA:416
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Abnormality of the knee, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, ...	ORPHA:1834
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Transient hypophosphatemia, Retinal calcification, H...	OMIM:127000
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Joint hyperflexibility, Hip dysplasia, Cl...	ORPHA:3375
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Facial palsy, Micrognathia, Cranial hyperostos...	OMIM:259720
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Renal neoplasm, Lipodystroph...	ORPHA:902
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Splenomegaly, Rickets	OMIM:211600
Joubert Syndrome 20	Postaxial polydactyly, Retinopathy, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Renal Tubular Dysgenesis	Joint hyperflexibility, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysg...	ORPHA:3033
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Pathologic fracture, Osteomalacia, Reduced bone mineral density	ORPHA:157215
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ...	OMIM:610915
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Micrognathia, Short neck, Flexion contracture, Hemivertebrae...	ORPHA:96334
Joubert Syndrome 39	Postaxial polydactyly, Retinal dystrophy, Joint contracture of the 5th finger, Polycystic kidney ...	OMIM:619562
Schnitzler Syndrome	Arthritis, Increased bone mineral density	ORPHA:37748
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner...	OMIM:603671
Joubert Syndrome 16	Polydactyly, Retinal dystrophy, Renal cyst, Nephronophthisis	OMIM:614465
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Optic disc pallor, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wi...	OMIM:300232
Distal Deletion 12Q	Broad hallux, Overlapping toe, Kyphoscoliosis, Ectopic kidney, Micrognathia, Short neck, Elbow fl...	ORPHA:96149
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Trisomy 20P	Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Ve...	ORPHA:261318
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Poems Syndrome	Sclerosis of hand bone, Papilledema, Lipodystrophy, Sclerosis of foot bone, Metaphyseal sclerosis...	ORPHA:2905
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Meckel Syndrome, Type 1	Omphalocele, Hypoplasia of the bladder, Bowing of the long bones, Syndactyly, Renal agenesis, Cam...	OMIM:249000
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis...	OMIM:612301
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Abnormal optic disc morphology, Partial duplication of the proximal phalanx of the ...	ORPHA:363417
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradia...	ORPHA:3404
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
22Q11.2 Deletion Syndrome	Micrognathia, Short neck, Hypocalcemia, Vesicoureteral reflux, Hypospadias, Abnormal dental ename...	ORPHA:567
12Q14 Microdeletion Syndrome	Micrognathia, Ectopic kidney, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, Scoliosis, Cli...	ORPHA:94063
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Preaxial polydactyly, Hypoplastic pubic bone, Fi...	OMIM:617925
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Raine Syndrome	Increased bone mineral density, Hydroureter, Bowing of the long bones, Micromelia, Micrognathia, ...	OMIM:259775
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Hypocalcemia, Polycystic kidney ...	ORPHA:2237
Sanjad-Sakati Syndrome	Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Smal...	ORPHA:2323
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Micrognathia, Proximal renal tubular acidosis,...	OMIM:181180
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Inguinal hernia, Short femur, Rhizomelia, Bowing of the long bones, Mic...	OMIM:613848
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Stage 5 chronic...	OMIM:613390
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Talipes equinovarus	OMIM:614209
Tricho-Dento-Osseous Syndrome	Finger clinodactyly, Increased bone mineral density, Enamel hypomineralization, Dental enamel pits	ORPHA:3352
Congenital Disorder Of Glycosylation, Type Ie	Short palm, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Microg...	OMIM:608799
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short m...	ORPHA:2044
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Recurrent u...	OMIM:609033
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Vitamin D-Dependent Rickets, Type 2A	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony ...	OMIM:277440
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Hyperphosphatemia, Hypocalcemia, Sho...	OMIM:241410
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia, Optic disc pallor	OMIM:619446
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3	Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:613151
Meckel Syndrome, Type 10	Sacral dimple, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand po...	OMIM:614175
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Optic atrophy, Small hand...	ORPHA:1597
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Inguinal hernia, Arachnodactyly, Joint stiffness, Optic atrophy, Deviation of finger, Bilateral t...	ORPHA:1154
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp...	ORPHA:289157
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Inguinal hernia, Short metacarpal, Craniosynostosis, Micrognathia, Met...	ORPHA:166035
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract...	OMIM:231070
Spinocerebellar Ataxia, Autosomal Recessive 8	Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiolo...	OMIM:610743
Vitamin K Antagonist Embryofetopathy	Short neck, Optic atrophy, Punctate vertebral calcifications, Epiphyseal stippling, Short distal ...	ORPHA:1914
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Mesoaxial hand polyda...	OMIM:236700
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Choriore...	OMIM:618733
Mosaic Trisomy 1	Thoracic scoliosis, Congenital diaphragmatic hernia, Renal cyst, Finger clinodactyly, Micropenis,...	ORPHA:1692
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Papilledema, Omphalocele, Abnormal hand morphology, Osteolysis involving bones of the...	ORPHA:371428
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Craniosynostosis, Micrognathia, Metaphyse...	OMIM:250410
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Vertebral segmentation defect, Chorioretinal coloboma, Triphalangeal thumb...	ORPHA:959
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Osteoporosis, Hypercalciuria,...	OMIM:615398
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, Postaxial polydactyly, Renal cyst, Pigmentary retinopathy, Rod-cone dyst...	OMIM:605231
Omodysplasia 2	Short humerus, Hypospadias, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited el...	OMIM:164745
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia...	ORPHA:3035
Tuberous Sclerosis Complex	Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ...	ORPHA:805
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Proteinuria, Pancreatic cysts, Clinodactyly, Ovarian cyst, Short 2...	OMIM:311200
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte...	OMIM:249660
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Optic atrophy, Scoliosis, Abnormal nerve conduction velocity, Pes cavus	ORPHA:99014
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Schindler Disease, Type I	Osteopenia, Increased urinary O-linked sialopeptides, Optic atrophy	OMIM:609241
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Unilateral renal agenesis, Neonatal epiphyseal stippling, Optic ...	OMIM:101800
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Micrognathia, Short neck, Short metatarsal, Renal cyst, Macular...	OMIM:266920
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Osteoporosis, Rickets, Joint hyperflexibility	ORPHA:1901
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Trisomy 13	Abnormal retinal vascular morphology, Kyphosis, Postaxial hand polydactyly, Abnormality of the ur...	ORPHA:3378
Desmosterolosis	Increased bone mineral density, Renal agenesis, Talipes, Micromelia, Renal hypoplasia/aplasia, Mi...	ORPHA:35107
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Optic atrophy, 2-3 toe syndactyl...	ORPHA:313892
Ogden Syndrome	Microretrognathia, Global glomerulosclerosis, Inguinal hernia, Congenital hip dislocation, Sandal...	OMIM:300855
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Campomelia, Cumming Type	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Bowing of the long bones, Micromelia...	ORPHA:1318
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Osteomalacia, Parathormone-independent increased renal tubula...	OMIM:600740
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Pancreatic cysts, Stage 5 chronic kidney disease, Ureteral atresia, Polycyst...	OMIM:208540
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Central retinal vessel vascular tortu...	ORPHA:2751
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Craniometaphyseal Dysplasia, Autosomal Recessive	Metaphyseal dysplasia, Facial palsy, Flared metaphysis, Optic atrophy, Club-shaped distal femur, ...	OMIM:218400
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Bile Acid Synthesis Defect, Congenital, 1	Splenomegaly, Rickets	OMIM:607765
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Optic atrophy, Renal cyst, Epiphyseal stippling, Rod-cone dystrophy	OMIM:601539
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia	ORPHA:1237
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Neuronal Intranuclear Inclusion Disease	Scoliosis, Spina bifida occulta, Optic atrophy, Abnormal form of the vertebral bodies	ORPHA:2289
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Diaphyseal sclerosis, Osteopetrosis, Distal renal tubular acidosis, Optic n...	OMIM:259730
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, ...	OMIM:206920
Sclerosteosis 1	Papilledema, Syndactyly, Facial palsy, Sclerotic scapulae, Optic atrophy, 2-3 finger syndactyly, ...	OMIM:269500
Atypical Werner Syndrome	Sclerosis of hand bone, Micrognathia, Reduced bone mineral density, Finger clinodactyly, Short pa...	ORPHA:79474
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Optic atrophy, Hypoplastic vertebral bodies,...	OMIM:230600
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Congenital dia...	ORPHA:1001
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Talipes, Severe generalized osteoporosis, Micrognathia, Kyphoscolio...	OMIM:210730
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl...	ORPHA:33364
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k...	ORPHA:53035
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph...	OMIM:605282
Williams Syndrome	Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Micrognathia...	ORPHA:904
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Micromelia, Micrognathia, Proximal placement of ...	OMIM:122470
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Optic atrophy, Cont...	ORPHA:329178
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Abnormally ossified vertebrae, Septo-optic dysplasia, Micrognathia,...	ORPHA:3301
Vacterl/Vater Association	Omphalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, R...	ORPHA:887
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Chorioretinal coloboma, Hernia, Finger syndactyly, Multicystic k...	ORPHA:2092
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Hyperlordosis, Clinodactyly, Small hand, Talipes equinovarus, Campt...	OMIM:619980
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst, Micrognathia	OMIM:231060
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Fibrochondrogenesis 1	Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop...	OMIM:228520
Distal Renal Tubular Acidosis	Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ...	ORPHA:18
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Pancreatic c...	ORPHA:731
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early ossification ...	ORPHA:397715
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Optic atrophy, Increased susceptibility to fractures,...	ORPHA:561
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent fractures, Elev...	ORPHA:355
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Hypospadias, Micrognathia, Absent thumb, Short thumb, 2-3 to...	OMIM:617516
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Optic atrophy, Reduced bone mineral density, Joint hyperflexibility, Slender lon...	ORPHA:1185
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Micrognathia, Short neck, Generalized joint laxity, Abnormal optic disc morph...	ORPHA:508498
Fibrous Dysplasia Of Bone	Thin bony cortex, Cortical irregularity, Osteomalacia, Testicular neoplasm, Fibrous dysplasia of ...	ORPHA:249
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Micrognathia,...	ORPHA:3015
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
C Syndrome	Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Mi...	OMIM:211750
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Camptocormia, Hyperkalemia, Optic atrophy, R...	OMIM:617595
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema, Facial palsy, Short neck	ORPHA:3456
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Multiple lipomas, Renal cyst	OMIM:135150
Erdheim-Chester Disease	Renal insufficiency, Increased bone mineral density, Osteomyelitis, Dysuria, Osteolysis, Abnormal...	ORPHA:35687
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Kyphosis, Abnormal shoulder morphology...	ORPHA:2115
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Proteinuria, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contrac...	OMIM:212065
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Limb joint contracture, Hypospadias, Overlapping toe, Tapered finger, Optic atrophy, Scoliosis, R...	OMIM:300004
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Conjugated hyperbilirubinemia, Rickets, Renal cyst, Hyperbilirubinemia, Abnormal seru...	ORPHA:79303
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Hyperostosis Cranialis Interna	Facial palsy, Optic atrophy, Osteosclerosis of the base of the skull, Calvarial hyperostosis, Hyp...	OMIM:144755
Dent Disease	Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul...	ORPHA:1652
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde...	OMIM:274000
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Abnormal circulating cholesterol concentrat...	OMIM:602398
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Optic atrophy, Short 5th finge...	OMIM:220500
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol...	ORPHA:97362
Coach Syndrome 1	Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Postaxial han...	OMIM:216360
Cystinosis	Rickets	ORPHA:213
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Hypospadias, Ankle flexion contracture, Unilateral renal a...	ORPHA:464311
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Osteopetrosis, Increased circulating ferritin concentration	ORPHA:3240
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Marden-Walker Syndrome	Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Abnormal penis morphology, Multi...	ORPHA:2461
2P15P16.1 Microdeletion Syndrome	Pes planus, Multicystic kidney dysplasia, Inguinal hernia, Sandal gap, Optic nerve hypoplasia, Fa...	ORPHA:261349
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Hernia, Decreased skull ossificatio...	ORPHA:955
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Recurrent fractures,...	ORPHA:562
Syndromic Diarrhea	Inguinal hernia, Polycystic kidney dysplasia, Renal hypoplasia, Abnormality of iron homeostasis	ORPHA:84064
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Elevated circulating creatine ...	ORPHA:2785
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Optic disc pallor, Joint laxity, Hypospadias, Arachnodactyly, Coxa valga, Metaphyseal...	OMIM:620083
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Glomerulopathy, Renal insufficiency, Proteinuria, Sandal gap...	ORPHA:2715
Cystic Echinococcosis	Bone cyst, Renal cyst, Ovarian cyst, Membranous nephropathy, Abnormality of the vertebral column,...	ORPHA:400
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Short neck, Metaphyseal widening, Flexion contracture, Optic atrophy, Clubbing, Neph...	OMIM:617303
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Hyponatremia, Calcinosis, Congenital hip dislocation, Epiphyseal dysplasia, Micrognat...	OMIM:617913
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arachnodactyly, Facial pal...	OMIM:300373
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous sy...	OMIM:618454
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Micrognathia, Hypercalciuria, ...	ORPHA:369837
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Rod-cone dystro...	OMIM:618161
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Thrombocytosis, Decreased circu...	OMIM:212750
Distal Deletion 13Q	Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Optic atrophy, Abnormal form of the ve...	ORPHA:1590
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Postaxial hand ...	ORPHA:110
Arthrogryposis Multiplex Congenita 5	Micrognathia, Short neck, Flexion contracture, Scoliosis, Hand clenching, Umbilical hernia, 11 pa...	OMIM:618947
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Micrognathia...	ORPHA:1556
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Optic disc pallor, Multiple joint contractures, Hypospadias, Arachnodactyly, Unila...	ORPHA:464306
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Hepatic cysts	OMIM:263630
Chromosome 17Q12 Deletion Syndrome	Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect...	OMIM:614527
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Kyphosi...	ORPHA:2075
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Micromelia, Micrognathia, Rocker bottom foot, Short...	ORPHA:99776
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Optic disc pallor, Micrognathia, Generalized joint laxity, Pigmentary retinopathy, Scoliosis, Lip...	ORPHA:502423
Meckel Syndrome, Type 2	Omphalocele, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Polydactyly	OMIM:603194
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Caroli Syndrome	Conjugated hyperbilirubinemia, Polycystic kidney dysplasia, Abnormality of the kidney, Hyperbilir...	ORPHA:480520
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear...	OMIM:600383
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Hypocalcemia, Joint laxity, Rhizomelia, Sagittal craniosynostosis, ...	OMIM:218330
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Increased susceptibility to fra...	ORPHA:2909
Meckel Syndrome, Type 5	Postaxial foot polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611561
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Ureteral stenosis, Increased density of long bones, Hypospadias, Hydrour...	OMIM:269150
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Ankle swelling, Retinal pigment epithelial mottling, Chor...	ORPHA:448237
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Patellar aplasia, ...	ORPHA:85201
Fanconi-Bickel Syndrome	Osteopenia, Rickets	ORPHA:2088
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Long foot, Abnormal thumb morph...	ORPHA:500095
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Postaxial polydactyly, Micrognathia, Clinodactyly, Renal hyp...	OMIM:618460
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, H...	OMIM:610965
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Craniosynostosis, Micrognathia, Ha...	ORPHA:261197
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, H...	ORPHA:99880
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Optic neuropathy, Broad femoral neck, Increased intervertebral space, Opti...	OMIM:619727
Trisomy 1Q	Omphalocele, Microretrognathia, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cam...	ORPHA:261344
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Fatigable weakness...	ORPHA:428
Aicardi-Goutieres Syndrome 9	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Optic atrophy, Osteoporosis...	OMIM:619487
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Reduced bone mineral density, Axonal loss, Shoulder dislocation, Hypo...	ORPHA:404454
Parathyroid Carcinoma	Renal insufficiency, Hypercalcemia, Renal hamartoma, Osteoporosis, Nephrolithiasis, Renal cyst, H...	ORPHA:143
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Joubert Syndrome 1	Optic disc pallor, Retinal dystrophy, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst...	OMIM:213300
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Limitation of joint mobility, Vesicoureter...	ORPHA:261494
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os...	ORPHA:667
Zellweger Syndrome	Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Hypospadias, Micrognathia, Optic...	ORPHA:912
Oculodentodigital Dysplasia	Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Finger synda...	ORPHA:2710
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Hypoalbuminemia, Renal cyst	OMIM:602579
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,...	ORPHA:552
Amish Lethal Microcephaly	Micrognathia, Limitation of joint mobility, Optic atrophy, Osteoporosis, Organic aciduria, Decrea...	ORPHA:99742
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Osteoporosis...	OMIM:612199
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Finger symphala...	ORPHA:221016
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Amino...	ORPHA:534
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Re...	OMIM:269860
Smith-Lemli-Opitz Syndrome	Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, ...	OMIM:270400
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Cryptorchidism, Finger symphala...	ORPHA:221008
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Renal cyst, Tibial bowing, Micropenis, Hypospadias, Sclerosis of skull ...	ORPHA:798
Phocomelia, Schinzel Type	Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma	ORPHA:2031
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Cystic renal dysplasia, Postaxial foot polydactyly, Poly...	OMIM:615989
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, ...	ORPHA:818
Joubert Syndrome 2	Renal insufficiency, Retinal dystrophy, Abnormal foot morphology, Postaxial hand polydactyly, Opt...	OMIM:608091
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the...	ORPHA:1507
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h...	ORPHA:373
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Fetal megacystis...	ORPHA:73246
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Joubert Syndrome 14	Postaxial polydactyly, Renal cyst, Optic atrophy, Morning glory anomaly	OMIM:614424
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Arthrogryposis multiplex co...	ORPHA:2671
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Broad hallux, Overlapping toe, Micrognathia, Genu valgum, Abnormal optic disc morphology, Congeni...	ORPHA:293967
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Pancreatic cysts, Bone cyst, Renal cyst, Pedal ed...	ORPHA:284
Craniosynostosis With Fibular Aplasia	Craniosynostosis, Fibular aplasia	OMIM:218550
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Orthostatic hypotension, Renal insufficiency, Recurrent fractures, ...	ORPHA:1764
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Arachnodactyly, Recurrent fractures, Joi...	ORPHA:394
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormal optic disc morphology	ORPHA:65
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Renal agenesis, Aplastic clavicl...	ORPHA:2538
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico...	ORPHA:107
Acrocephalopolydactylous Dysplasia	Omphalocele, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Cystic renal d...	OMIM:200995
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Inguinal hernia, Pes planus, Long foot, Bowing of the legs, Long hallux, Renal...	OMIM:617107
Von Hippel-Lindau Disease	Back pain, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholam...	ORPHA:892
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Gaucher Disease Type 3	Increased bone mineral density, Proteinuria, Osteolysis, Increased susceptibility to fractures, H...	ORPHA:77261
Tibial Hemimelia	Absent tibia	OMIM:275220
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Hydrolethalus Syndrome 1	Omphalocele, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Du...	OMIM:236680
D-Bifunctional Protein Deficiency	Osteopenia, Micrognathia, Decreased nerve conduction velocity, Split hand, Renal cyst, Hammertoe,...	OMIM:261515
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Renal insufficiency, Inguinal hernia, Postaxial hand polydactyly, O...	ORPHA:1454
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Multicystic kidney dysplasia, Polydactyly, Postaxial hand polydactyly	OMIM:607361
Orofaciodigital Syndrome Type 1	Finger syndactyly, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Tarsal synosto...	ORPHA:2750
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Stenosis of the medullary cavity of the long bones, Retinal calcification, Cortical ...	ORPHA:93325
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Elevated circulating creatine kinase concentration, Flexion contracture, Optic atrophy, Pigmentar...	OMIM:613154
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Aganglionic megacolon, Hypospadias, Congenital diaphra...	ORPHA:2059
Nabais Sa-De Vries Syndrome, Type 2	Clinodactyly of the 5th finger, Tapered finger, Multicystic kidney dysplasia, Micrognathia	OMIM:618829
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Micrognathia, Coxa valga, Short neck, Hip dislocation, Ren...	OMIM:619297
Proteus Syndrome	Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bodies, Chorioretinal colo...	ORPHA:744
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Fryns Syndrome	Omphalocele, Ureteral duplication, Microretrognathia, Aganglionic megacolon, Hypospadias, Renal a...	OMIM:229850
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Abnormality of the vertebral spinous processes, Abnormal auditory ...	ORPHA:909
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr...	OMIM:616469
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Talipes equinovalgus, Elbow flexion cont...	ORPHA:3132
Meckel Syndrome, Type 6	Postaxial hand polydactyly, Renal cyst, Horseshoe kidney, Postaxial foot polydactyly, Aplasia of ...	OMIM:612284
Charge Syndrome	Micrognathia, Hemivertebrae, Hand monodactyly, Hypocalcemia, Micropenis, Hypoplasia of the ulna, ...	OMIM:214800
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Renal insufficiency, Inguinal hernia, Rhizomelia, Craniosynostosis, Mic...	OMIM:613610
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Femoral bowing, Talipes equinovarus, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Meckel Syndrome, Type 4	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst	OMIM:611134
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Multicystic kidney dysplasia, Brachydactyly, Kyphoscoliosis...	ORPHA:97360
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Preaxial hand...	ORPHA:93271
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Hiatus hernia, Missing ...	ORPHA:50
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Hypertriglyceridemia, Multiple small medull...	OMIM:118450
Bardet-Biedl Syndrome 20	Papilledema, Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, ...	OMIM:619471
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Micrognathia, Short neck, Renal cyst, ...	OMIM:257300
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st...	OMIM:305600
Juvenile Glaucoma	Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho...	ORPHA:98977
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Renal cyst, Clinodactyly	OMIM:615560
Retinitis Pigmentosa 74	Optic disc pallor, Abnormal renal morphology, Pigmentary retinopathy, Polydactyly, Rod-cone dystr...	OMIM:616562
7Q11.23 Microduplication Syndrome	Pes planus, Inguinal hernia, Sacral dimple, Hypospadias, Craniosynostosis, Unilateral renal agene...	ORPHA:96121
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Jacobsen Syndrome	Broad hallux phalanx, Inguinal hernia, Multicystic kidney dysplasia, Finger syndactyly, Pes planu...	ORPHA:2308
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Splenomegaly, Decreased circu...	OMIM:619381
Townes-Brocks Syndrome 1	Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger ...	OMIM:107480
Wilson Disease	Hemolytic anemia, Osteomalacia, Thrombocytopenia, Osteoarthritis, Splenomegaly, Osteoporosis, Ane...	OMIM:277900
Trisomy 10P	Thumb contracture, Abnormality of the kidney, Abnormal auditory evoked potentials, Micrognathia, ...	ORPHA:171929
1P36 Deletion Syndrome	11 pairs of ribs, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnormality of the k...	ORPHA:1606
Meckel Syndrome, Type 7	Inguinal hernia, Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage...	OMIM:267010
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati...	OMIM:312870
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, Atypical scarring of ski...	ORPHA:1297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Hypospadias, Micrognathia, Optic atrophy, Renal cyst, Hip dyspl...	OMIM:616975
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Chorioretinal coloboma, Triphalangeal thumb, Clinodactyly of...	ORPHA:857
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ...	OMIM:613658
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Renal cyst, Short ribs, Hyperechogenic kidneys, Retinopathy	OMIM:615636
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, General...	ORPHA:1596
Transketolase Deficiency	Increased level of ribose in urine, Renal cyst, Elevated circulating ribitol concentration	ORPHA:488618
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs, Multicystic kidney dysplasia, Elevated circulating creatine kinase concentratio...	OMIM:615287
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Structural Heart Defects And Renal Anomalies Syndrome	Overlapping toe, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Wide penis, Hypoplastic vertebral bodies, Vesicoureteral reflu...	ORPHA:3455
C Syndrome	Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Sacral dimple, Talipes, Congenital dia...	ORPHA:1308
Tetrasomy 9P	Micrognathia, Short neck, Clinodactyly of the 5th finger, Micropenis, Amelogenesis imperfecta, Ab...	ORPHA:3310
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Flexion contracture, Optic atrophy, Renal hypoplasia, ...	OMIM:619321
Tuberous Sclerosis 1	Dental enamel pits, Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Renal angiomyol...	OMIM:191100
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Bowing of the long bones, Abnormal chorioreti...	ORPHA:564
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti...	OMIM:613254
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Renal inters...	ORPHA:91500
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Toe syndactyly,...	ORPHA:709
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Cryptorchidism, Rickets, Pathologic fracture, Joint contra...	OMIM:309000
Orofaciodigital Syndrome Type 4	Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Micrognathia, Renal hypop...	ORPHA:2753
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Cryptorchidism, Osteoporosis, Rickets	ORPHA:2636
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Ep...	OMIM:193300
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Talipes equinovarus, Pes planus, Renal dysplasia, Renal cyst	OMIM:617260
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micromelia, Micrognathia, Proximal placemen...	ORPHA:199
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atrophy, Hematuria, Multiple ren...	ORPHA:538
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Hypophosphatemia, Pigmentary retino...	ORPHA:699
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Micrognathia, Patellar...	OMIM:606170
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia	ORPHA:2241
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Kyphosis, Clinodactyly of the 5th finger, Tracheomalacia	ORPHA:1393
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Renal agenesis, Proximal placement of thumb, Micrognathia, Short thumb...	OMIM:113620
Beckwith-Wiedemann Syndrome	Omphalocele, Ureteral duplication, Inguinal hernia, Elevated circulating alpha-fetoprotein concen...	ORPHA:116
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Cystinosis, Nephropathic	Hypophosphatemic rickets, Splenomegaly, Rickets	OMIM:219800
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Micrognathia, Small hand, Vesicoureteral reflux, Horseshoe kidney, Fibular hypoplasi...	ORPHA:444077
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Short neck, Micrognathia, Renal cyst	ORPHA:495875
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Micrognathia, Osteolysis, Clinodactyly of the 5th finger, Nephrobla...	ORPHA:1052
Histiocytoid Cardiomyopathy	Optic atrophy, Renal cyst, Polycystic ovaries	ORPHA:137675
Pagod Syndrome	Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla...	ORPHA:991
Pmm2-Cdg	Osteopenia, Joint laxity, Pes planus, Multiple joint contractures, Proteinuria, Lipodystrophy, Ky...	ORPHA:79318
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Aganglionic megacolon, Hypospadias, U...	OMIM:308205
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium	ORPHA:220460
Fraser Syndrome	Omphalocele, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, T...	ORPHA:2052
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Microgn...	OMIM:601803
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral reflux, Webbe...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral reflux, Webbe...	ORPHA:261552
Mowat-Wilson Syndrome	Urinary incontinence, Flexion contracture, Calcaneovalgus deformity, Vesicoureteral reflux, Webbe...	ORPHA:2152
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Osteomalacia, Fused cervica...	ORPHA:51608
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Block vertebrae, Renal agenesis, Ectopic kidney, Micrognathia, Part...	OMIM:164210

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

X-ray

Gross Pathology and Tissue Collection

X-ray

X-ray

Eye Morphology

Histopathology

Combined SHIRPA and Dysmorphology

Eye Morphology

Human diseases caused by Plekhm1 mutations

Histopathology

IMPC related publications

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