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Gene: Chsy1 MGI:2681120

Gene Summary

Name:

chondroitin sulfate synthase 1

Synonyms:

skt

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
hydrocephaly	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	5.21×10^-06
abnormal skin morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased body length	Chsy1^em1(IMPC)Mbp	HOM	Early adult	4.87×10^-07
abnormal auditory brainstem response	Chsy1^em1(IMPC)Mbp	HOM	Early adult	2.88×10^-06
increased mean corpuscular volume	Chsy1^em1(IMPC)Mbp	HOM	Early adult	5.13×10^-05
microphthalmia	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal retina morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	6.18×10^-05
abnormal lymph node morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral content	Chsy1^em1(IMPC)Mbp	HOM	Early adult	2.73×10^-14
enlarged heart	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal bone structure	Chsy1^em1(IMPC)Mbp	HOM	Early adult	1.97×10^-13
abnormal cecum morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal brain morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
cataract	Chsy1^em1(IMPC)Mbp	HOM	Early adult	8.32×10^-06
decreased grip strength	Chsy1^em1(IMPC)Mbp	HOM	Early adult	4.16×10^-07
abnormal liver morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased bone mineral density	Chsy1^em1(IMPC)Mbp	HOM	Early adult	2.48×10^-05
small liver	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
corneal opacity	Chsy1^em1(IMPC)Mbp	HOM	Early adult	4.33×10^-10
abnormal spleen morphology	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased brain size	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
urinary bladder obstruction	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged cecum	Chsy1^em1(IMPC)Mbp	HOM	Early adult	0.00

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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 Whole Body Lateral Orientation

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

39 Images

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Histopathology

Images

1 Images

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Human diseases caused by Chsy1 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 Chsy1 (2 diseases)
Human diseases predicted to be associated with Chsy1 (2716 diseases)

The table below shows human diseases associated to Chsy1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Temtamy Preaxial Brachydactyly Syndrome		Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph...	OMIM:605282
Temtamy Preaxial Brachydactyly Syndrome		Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417

The table below shows human diseases predicted to be associated to Chsy1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Avascular Necrosis Of Femoral Head, Primary, 2	Avascular necrosis of the capital femoral epiphysis	OMIM:617383
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber...	OMIM:156530
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal rib morpholo...	ORPHA:93351
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Pseudoachondroplasia	Irregular acetabular roof, Limited hip extension, Distal joint laxity, Delayed epiphyseal ossific...	ORPHA:750
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Retinal detachment, Microme...	ORPHA:93296
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Short neck, Multiple joint dislocation, Hip...	OMIM:618395
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell...	OMIM:151210
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Tibial Hemimelia	Absent tibia	OMIM:275220
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ...	OMIM:618889
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv...	OMIM:215045
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis...	ORPHA:566943
Osteochondrosis Of The Tarsal Bone	Tarsal sclerosis, Arthritis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho...	ORPHA:563991
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Wormian bones, Broad long bones, Recurrent fractures, Beaded ribs, Absent os...	OMIM:166210
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs...	OMIM:244460
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo...	ORPHA:73230
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, T...	OMIM:617952
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormality of the hand, Abnorm...	ORPHA:1842
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Rhizomelia, Anterior rib cupping, Rod-cone dystrophy, Proximal femoral m...	OMIM:602271
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Short neck, Lateral clavic...	OMIM:269250
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate...	OMIM:228520
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th...	OMIM:620076
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Micromelia, Short neck, Wide distal femoral metaphysis, Delayed epiphyseal...	OMIM:613320
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Increased inflammatory response, Protrusio acetabuli, Abnormal femoral head morpholog...	ORPHA:2619
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Avascular necros...	OMIM:132400
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor...	ORPHA:2790
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Thin ribs, Slender long bone, Decreased calvarial ossification, A...	OMIM:618265
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral...	ORPHA:2635
Prieto Syndrome	11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Talipes equinovarus, Radial dev...	OMIM:309610
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h...	OMIM:252600
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna...	ORPHA:3268
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Narrow chest, Short ribs, Absent or minimally ossified vertebral bo...	OMIM:600972
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Hypophosphatasia, Infantile	Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to...	OMIM:241500
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Abnormal rib cage morphology, ...	OMIM:608154
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Beaded ribs, Mu...	OMIM:616897
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Epiphyseal Dysplasia, Multiple, 3	Abnormal hip joint morphology, Short metacarpal, Epiphyseal dysplasia, Delayed epiphyseal ossific...	OMIM:600969
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, S...	OMIM:618392
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Missing ribs, Postaxial polydactyly, ...	OMIM:617866
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid...	OMIM:224400
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Double-layered patella, Abnormal hip joint morphol...	ORPHA:166011
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kypho...	OMIM:616294
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Pectus carinatum, Abnormal calcificatio...	OMIM:271665
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Optic atrophy, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Winchester Syndrome	Arthropathy, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, G...	OMIM:277950
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular ...	ORPHA:53
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Hyperparathyroidism, Transient Neonatal	Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r...	OMIM:618188
Gracile Bone Dysplasia	Asplenia, Flared metaphysis, Thin ribs, Slender long bone, Hypoplastic spleen, Decreased skull os...	OMIM:602361
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Eng-Strom Syndrome	Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly	ORPHA:1937
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus ca...	OMIM:182212
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow...	ORPHA:1423
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Knee flexion contract...	OMIM:601559
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, T...	ORPHA:2463
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the pha...	OMIM:615630
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir...	OMIM:609325
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ...	ORPHA:166002
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Knee...	OMIM:600920
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ...	ORPHA:66637
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,...	ORPHA:85435
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Rhegmatogenous retinal detachment, Abnormality ...	ORPHA:485
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Diastrophic Dysplasia	Joint dislocation, Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Microgn...	ORPHA:628
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Micrognathia, Osteoporosis, H...	OMIM:601812
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphos...	OMIM:208230
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, He...	OMIM:224690
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Three M Syndrome 1	Joint dislocation, Scapular winging, Short neck, Pectus excavatum, Increased vertebral height, Hy...	OMIM:273750
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r...	OMIM:173800
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia...	OMIM:156400
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,...	OMIM:226980
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
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
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal cortical bone morphology, Abn...	ORPHA:2097
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H...	ORPHA:40
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab...	ORPHA:429
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Thickened ribs, Cortical sclerosis, Craniofacial osteoscl...	OMIM:122860
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab...	ORPHA:2021
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh...	ORPHA:958
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Lateral clavicle hook, Hypoplastic iliac wing, Early ossification of capi...	OMIM:208500
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Congenital Amegakaryocytic Thrombocytopenia	Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Anemia, Scoliosis, Decrea...	ORPHA:3319
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Bulging epiphyses, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Kagami-Ogata Syndrome	Long clavicles, Kyphoscoliosis, Coxa valga, Micrognathia, Long fingers, Splenomegaly, Flexion con...	OMIM:608149
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Radioulnar ...	ORPHA:2741
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Fetal Cytomegalovirus Syndrome	Splenomegaly, Sensorineural hearing impairment, Anemia, Hepatomegaly	ORPHA:294
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis	OMIM:618155
Cranio-Osteoarthropathy	Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Club...	ORPHA:1525
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Corneal opacity, Microcornea, Microphthalmia, Median cleft palate	ORPHA:2432
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Coxa valga, Osteoporosis, Abnormal fundus morphology, Finger clinodactyly, Patellar subluxation, ...	ORPHA:2958
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn...	ORPHA:666
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h...	OMIM:256050
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Thin ribs, Pectu...	OMIM:612921
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Recurrent patellar dislocatio...	OMIM:614078
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent...	OMIM:119600
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral...	OMIM:223800
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Ventriculomegal...	ORPHA:858
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Short neck, Anisospondyly, Fl...	ORPHA:1865
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Microretrognathia, Hip contracture, Thoracic hypoplasia, Kyphoscoliosis, Coxa valga, Hyperlordosi...	OMIM:618363
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Abn...	ORPHA:85198
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth...	OMIM:614135
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Short neck, Micrognathia, Short metatarsal, Macular degeneration, Narrow...	OMIM:266920
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Wild Type Abeta2M Amyloidosis	Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Bon...	ORPHA:85446
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Psoriasiform dermatitis, Acne, Skin rash, Abnormal sacroiliac joint morphology, Cr...	ORPHA:324964
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Subretinal deposits, Early ossification ...	ORPHA:397715
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Wide cranial sutures, Limited elbow movement, Joint stiffness, Delayed closure...	OMIM:614008
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Metaphyseal widening, Coxa vara, Femoral bowing, Tibial bowing, Narrow greater sciatic notch, Hyp...	OMIM:608940
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Camptodactyly, Arthrogr...	OMIM:618393
Pallister-Hall-Like Syndrome	Toe syndactyly, Glioma, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Po...	OMIM:241800
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu...	ORPHA:1488
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Abnormal hip joint morphology, Retinal detachment, Broad hallux, Ovoid ve...	ORPHA:1856
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Corneal opacity, Thrombocytopenia, Abnormality of the liver, Ventriculomegaly	ORPHA:1980
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
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
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Short neck, Elbow flexion...	OMIM:616809
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Arthrogr...	ORPHA:171430
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Enlarged joints, Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Li...	ORPHA:156728
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl...	OMIM:617895
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Jeune Syndrome	Abnormal clavicle morphology, Abnormality of retinal pigmentation, Toe syndactyly, Micromelia, Po...	ORPHA:474
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o...	ORPHA:290
Progressive Osseous Heteroplasia	Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly	ORPHA:2762
Achondrogenesis Type 1B	Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short thorax, Abnormal ri...	ORPHA:93298
Paget Disease Of Bone 5, Juvenile-Onset	Barrel-shaped chest, Osteopenia, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Hallermann-Streiff Syndrome	Wormian bones, Abnormality of the hand, Hyperlordosis, Pectus excavatum, Micrognathia, Metaphysea...	OMIM:234100
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Spondyloepiphyseal Dysplasia, Kimberley Type	Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology	ORPHA:93283
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly	OMIM:618618
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ...	ORPHA:436
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Splenomegaly, Flexion contracture, Osteoporosis, Nephropathy, Asci...	ORPHA:87876
Ruvalcaba Syndrome	Short metacarpal, Retinal dystrophy, Micromelia, Kyphosis, Short metatarsal, Small hand, Short fo...	OMIM:180870
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:264700
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Micro...	OMIM:200980
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology,...	ORPHA:1486
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hydrocephalus, Osteoporosis, Abnormal...	ORPHA:2169
Basal Cell Nevus Syndrome 1	Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Palm...	OMIM:109400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Sandal gap, Delayed cranial suture closure, Elevated hemoglobin A1c, Joint stiffness,...	OMIM:619127
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Sc...	ORPHA:177
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Rhizomelia, Recu...	OMIM:616229
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short ...	ORPHA:93299
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the...	OMIM:184250
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fractures, Kyphosis, Pectus...	OMIM:259440
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Anisospondyly, Micrognathia, Sho...	ORPHA:2484
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Shoulder flexion c...	OMIM:620369
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem...	ORPHA:1190
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen...	ORPHA:93476
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol...	OMIM:142900
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Osteomalacia, Recurrent fractures, Abnormal thorax morphology, Bone cyst, Genu...	ORPHA:93160
Vitamin D-Dependent Rickets, Type 2A	Enlargement of the ankles, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiost...	OMIM:277440
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Short neck, Short metatarsal, Optic atrophy, Cone-shaped...	OMIM:613328
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ...	ORPHA:93346
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly	ORPHA:1277
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Osteolysis...	OMIM:166300
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Peripheral retinal avascularization, Single transverse palmar crease, Short neck, Micrognathia, F...	ORPHA:96334
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Osteoarthrit...	OMIM:142669
Acrocephalopolydactyly	Genu recurvatum, Short neck, Hepatosplenomegaly, Short long bone, Limb undergrowth, Thoracic hypo...	ORPHA:221054
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn...	OMIM:102510
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Hypoplastic s...	OMIM:308050
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Osteopenia, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinoda...	OMIM:617877
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Hearing impairment, Joi...	OMIM:617052
Seckel Syndrome 4	11 pairs of ribs, Steep acetabular roof	OMIM:613676
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration, Hip osteoarthritis, Abnormal epi...	OMIM:619248
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Bardet-Biedl Syndrome 16	Recurrent otitis media, Rod-cone dystrophy, Polydactyly, Retinal degeneration	OMIM:615993
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga	OMIM:615612
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Thoracic kyphosis, Narrow chest, Abnormal bone ossification, Abnormal f...	ORPHA:163649
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Limited elb...	OMIM:216100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Tubulointerstitial nephritis, Narrow chest, Joint laxity, Rhizom...	OMIM:218330
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Keratitis, Osteoarthritis, Osteolysis, Abnormal diaph...	ORPHA:1657
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosi...	OMIM:607095
Ellis-Van Creveld Syndrome	Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Pos...	OMIM:225500
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:1354
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal...	ORPHA:3035
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Flattened metatarsal heads, Arthropathy, Generalized morning stiffness, Coxa vara, Arthritis, Con...	OMIM:208250
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb...	OMIM:108720
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Osteopor...	OMIM:612562
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Nail-Patella Syndrome	Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy...	ORPHA:2614
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Papilledema, Abnormal hand morphology, Sclerotic cranial sutures, Osteol...	ORPHA:371428
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anterior fontanel, Micrognathia, P...	OMIM:617925
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ...	OMIM:613803
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Short neck, Splenomegaly, Kyphosis, Arthriti...	ORPHA:61
Melorheostosis	Increased bone mineral density, Joint stiffness, Upper limb asymmetry, Hyperostosis, Arthritis, E...	ORPHA:2485
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Missing ribs, S...	OMIM:608022
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, B...	ORPHA:1473
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,...	OMIM:616300
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Sho...	ORPHA:582
Achondrogenesis	Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short thorax, Abnormality...	ORPHA:932
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal heart valve morphology, Corneal opacity, Joint stiffness, Cle...	ORPHA:577
Stickler Syndrome, Type I	Arthropathy, Retinal detachment, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Ost...	OMIM:108300
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,...	OMIM:607143
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe...	ORPHA:93311
Hypocalcemic Vitamin D-Dependent Rickets	Thin bony cortex, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachi...	ORPHA:289157
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft pala...	OMIM:612561
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Vertebral segmentation defe...	ORPHA:2631
Angel-Shaped Phalango-Epiphyseal Dysplasia	Short middle phalanx of the 5th finger, Joint hyperflexibility, Hip dysplasia, Short middle phala...	ORPHA:63442
Noonan Syndrome 12	11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Atopic dermatitis, Spinal canal ...	OMIM:618624
Ceroid Lipofuscinosis, Neuronal, 1	Flexion contracture, Optic atrophy, Vacuolated lymphocytes, Macular degeneration, Retinal degener...	OMIM:256730
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later...	OMIM:161200
Senior-Loken Syndrome 9	Osteopenia, Retinal dystrophy, Hypoplasia of the femoral head, Tubulointerstitial nephritis, Macu...	OMIM:616629
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Spinal c...	OMIM:307800
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal s...	OMIM:260400
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect...	ORPHA:175
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Long clavicles, Seborrheic dermatitis, Pectus excavatum, Limitation of j...	OMIM:259100
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni...	OMIM:271510
Bone Marrow Failure Syndrome 6	Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co...	OMIM:618849
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Retinal pigment epithelial mo...	OMIM:617102
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Splenomegaly, Optic atrophy, Hypoplastic vertebral bodies, Platyspon...	OMIM:230600
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Familial Avascular Necrosis Of Femoral Head	Hip osteoarthritis, Flattened femoral head, Limited hip movement, Abnormal femoral neck/head morp...	ORPHA:86820
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Flexion contracture, Optic nerve hypoplasia, Thin ribs	OMIM:614833
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered fing...	OMIM:612350
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Flexion contracture, Knee osteoarthritis, Uveitis, Enthesitis, Ab...	ORPHA:85408
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, De...	OMIM:613839
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal palmar dermatoglyphics, Spli...	ORPHA:2092
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Brachydactyly	OMIM:615982
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Short neck, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocat...	OMIM:245600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Metaphyseal dysplasia, Brachydactyly, Epiphyseal dysplasia, Single transverse palmar crease, Eosi...	OMIM:617425
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Prot...	ORPHA:261250
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Osteoarthritis, Pectus carinatum, Abnormal metacarpal morphology	ORPHA:166100
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Wt Limb-Blood Syndrome	Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Thrombo...	OMIM:194350
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Tarsal synostosis, Micromelia, Abnorma...	ORPHA:2633
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Scapular winging, Ivory epiphyses of the distal phalanges of the hand, Short metacarp...	OMIM:190350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Schnitzler Syndrome	Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Shwachman-Diamond Syndrome	Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P...	ORPHA:811
Infantile Sialic Acid Storage Disease	Osteopenia, Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Neph...	OMIM:269920
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Hypophosphatemic Rickets, X-Linked Recessive	Enlargement of the ankles, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Congenital Atransferrinemia	Arthritis, Anemia	ORPHA:1195
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Microcephaly-Micromelia Syndrome	Micromelia, Craniosynostosis, Missing ribs, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Developmental And Epileptic Encephalopathy 36	Hepatomegaly, Hydrocephalus, Flexion contracture, Optic atrophy, Hypsarrhythmia, Low-set ears	OMIM:300884
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m...	ORPHA:2769
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Retinal dystrophy, Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, ...	OMIM:263520
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteoly...	ORPHA:100024
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Peripheral Dysostosis	Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly...	ORPHA:1795
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Arachnodactyly, Long palm, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of...	ORPHA:2759
Lethal Congenital Contracture Syndrome 5	Congenital contracture, Flexion contracture, Retinal hemorrhage, Thin ribs	OMIM:615368
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Acne, Inflammatory abnormality of the skin, Congen...	ORPHA:77297
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome	Hydrocephalus, Dandy-Walker malformation, Optic atrophy, Orbital craniosynostosis	ORPHA:1538
Pachydermoperiostosis	Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo...	ORPHA:2796
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Bowing of the long bones, Epiphyseal dysplasia, Kyphoscoliosis, Pectus ...	OMIM:615349
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo...	OMIM:269150
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short...	OMIM:615222
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil...	ORPHA:229717
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Wide anterior fontanel, Flared metaphys...	OMIM:269300
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Dysplasia Epiphysealis Hemimelica	Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiffness, Osteoa...	ORPHA:1822
Metaphyseal Acroscyphodysplasia	Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic...	ORPHA:1240
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Generalized joint la...	ORPHA:99330
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,...	OMIM:147750
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Polyarticular arthropath...	ORPHA:66627
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Osteolysis, ...	ORPHA:2774
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis, Broad hallux, Short thumb, Premature osteoarthritis, Hip osteoarthritis, Os...	OMIM:165800
Cleidocranial Dysplasia	Sinusitis, Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the ...	ORPHA:1452
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Hydrocephalu...	ORPHA:93400
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo...	OMIM:615631
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Short neck, Splenomegaly, Short toe, Short thorax, Broa...	OMIM:269860
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal cardiac septum morphology, Corneal opacity, Reduced b...	ORPHA:2370
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro...	OMIM:256550
Glycoprotein Storage Disease	Splenomegaly, Gout	OMIM:232900
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Fibular hypoplasia, Flat acetabu...	OMIM:600002
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Co...	OMIM:603116
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Joint stiffness, Sp...	ORPHA:585
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Farber Disease	Abnormality of the knee, Abnormality of the hand, Thrombocytopenia, Short toe, Flexion contractur...	ORPHA:333
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp...	OMIM:271600
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Galactosialidosis	Cherry red spot of the macula, Corneal opacity, Hearing impairment	ORPHA:351
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo...	OMIM:619131
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel...	ORPHA:94068
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generali...	OMIM:618000
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Recurr...	OMIM:612301
Larsen Syndrome	Finger syndactyly, Brachydactyly, Craniosynostosis, Large joint dislocations, Accessory carpal bo...	ORPHA:503
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Joint hypermobility, Thin ribs	ORPHA:456328
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Osteo...	OMIM:615085
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Abnormal vitreou...	ORPHA:90654
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Macrocytic anemia, Cleft palate, Persistence of hemoglobin F, Increased mean corpuscular volume, ...	OMIM:300946
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy...	OMIM:150250
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration, Distal upper limb muscle weakness, Distal upper limb amyotrophy	OMIM:619764
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome...	ORPHA:79301
Hurler Syndrome	Hypoplasia of the femoral head, Joint stiffness, Coxa valga, C1-C2 subluxation, Metaphyseal widen...	OMIM:607014
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ...	ORPHA:1597
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Septo-optic dysplasia, Missing ribs, Micrognathia, Optic atrophy, ...	ORPHA:3301
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2462
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Long clavicles, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Superficial der...	ORPHA:83617
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Hydrocephalus, Gastroesophageal reflux, Arthrogryposis multiplex congenita...	ORPHA:250994
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Alpha-Mannosidosis, Adult Form	Osteopenia, Optic disc pallor, Pancytopenia, Mixed hearing impairment, Corneal opacity, Cataract,...	ORPHA:309288
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Odontochondrodysplasia	Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint hyperflexibility, ...	ORPHA:166272
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Posterior embryotoxon, Abnormal chorioretinal morphol...	ORPHA:912
Mulibrey Nanism	Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig...	OMIM:253250
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Ceroid Lipofuscinosis, Neuronal, 3	Vacuolated lymphocytes, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degenera...	OMIM:204200
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl...	OMIM:615633
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Left ventricular hypertrophy, Micro...	OMIM:613153
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Retinal detachment, Joint laxity, Corneal opacity, Osteoporosis, Abnormal vitreous hu...	ORPHA:2788
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Reticuloendotheliosis, X-Linked	Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly	OMIM:312500
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Corneal Dystrophy-Perceptive Deafness Syndrome	Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy	ORPHA:1490
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Hallermann-Streiff Syndrome	Recurrent fractures, Micrognathia, Small hand, Uveitis, Reduced bone mineral density, Short foot,...	ORPHA:2108
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Castleman Disease	Myelofibrosis, Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lympha...	ORPHA:160
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib ...	ORPHA:3404
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Lumbar scoliosis, Clinodactyly of ...	OMIM:614851
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Microphthal...	OMIM:613730
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Triploidy	Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Inte...	ORPHA:3376
Zika Virus Disease	Maculopapular exanthema, Ankle swelling, Skin rash, Optic disc hypoplasia, Wrist swelling, Retina...	ORPHA:448237
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wri...	ORPHA:2848
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Spinal canal stenosis,...	OMIM:614613
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Short neck, Metatarsus adductus, Micrognathia, Calcaneovalgus ...	OMIM:616266
Fetal Akinesia Deformation Sequence 1	Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Rocker ...	OMIM:208150
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Short neck, Micrognathia...	OMIM:620073
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density	ORPHA:172
Nephronophthisis 15	Polydactyly, Retinal degeneration	OMIM:614845
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl...	OMIM:250410
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Joint stiffness, Abnormality of the humerus, ...	ORPHA:2496
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Nephrocalcinosis, De...	OMIM:611590
Robinow Syndrome, Autosomal Recessive 1	Short neck, Micrognathia, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Stickler Syndrome Type 1	Retinal detachment, Osteoarthritis, Abnormal vitreous humor morphology, Joint hyperflexibility, P...	ORPHA:90653
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Craniosynostosis, Micromelia, Elbow dis...	ORPHA:93329
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Pr...	OMIM:215150
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Juvenile Sialidosis Type 2	Hepatomegaly, Cataract, Corneal opacity, Protruding tongue, Optic atrophy, Abnormal heart morphol...	ORPHA:93399
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Peripheral Dysostosis	Hip osteoarthritis, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Myotubular Myopathy With Abnormal Genital Development	Joint hypermobility, Thin ribs	OMIM:300219
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Splenomegaly, Hydroc...	OMIM:610333
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Micrognathia...	ORPHA:2522
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Cholangitis, Craniosynostosis, Short neck, Pectus excavatum...	OMIM:613610
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Persistent open anterior fontanelle, Wo...	ORPHA:1798
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, Increased mean cor...	OMIM:127550
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Vesicoureteral reflux, Micropenis, Hepatomegaly, Hypospadias, Astigmatism, Pulmonic s...	OMIM:301056
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop...	OMIM:616171
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Thoracolumbar kyphosis, Increased intervertebral space, T l...	ORPHA:508533
Seckel Syndrome 1	11 pairs of ribs, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion crease, Sing...	OMIM:210600
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Camptodactyly	OMIM:604273
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit...	OMIM:604416
Dent Disease 1	Enlargement of the ankles, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Osteoarthritis, Brachydactyly	ORPHA:435804
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Congenital Hydrocephalus	Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Optic atrophy, Abnorma...	ORPHA:2185
Felty Syndrome	Episcleritis, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology, Limitation of...	ORPHA:47612
Fryns Syndrome	Microretrognathia, Single transverse palmar crease, Proximal placement of thumb, Rocker bottom fo...	OMIM:229850
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Diamond-Blackfan Anemia	Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atrial septal def...	ORPHA:124
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Autosomal Dominant Hypophosphatemic Rickets	Osteomalacia, Bowing of the legs, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Verteb...	OMIM:611209
Frontometaphyseal Dysplasia 1	Carpal synostosis, Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Incr...	OMIM:305620
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Scoliosis, Rod-cone dystrophy, Retinal degener...	ORPHA:79320
Qazi-Markouizos Syndrome	Pectus excavatum, Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodysplasia, Ro...	ORPHA:166035
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Chorioretinal dysplasia, Protruding ear, Microcornea, Abnormal...	ORPHA:899
Pycnodysostosis	Abnormal clavicle morphology, Persistent open anterior fontanelle, Micrognathia, Generalized oste...	ORPHA:763
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Optic disc pallor, Normocytic anemia, Rocker bottom foot, Kyphoscoliosis, Acant...	OMIM:618947
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, P...	OMIM:211750
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Warburg Micro Syndrome 1	Enlarged sylvian cistern, Optic atrophy, Osteoporosis, Developmental cataract, Microcornea, Low-s...	OMIM:600118
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Flexion contracture, Reduced bone mineral density, Conductive hearing ...	ORPHA:581
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Bardet-Biedl Syndrome 9	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Postax...	OMIM:615986
Sapho Syndrome	Osteomyelitis, Psoriasiform dermatitis, Recurrent fractures, Acne, Skin rash, Pustule, Abnormal s...	ORPHA:793
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Short foot, Cone-shaped epiphysis, Short long bone, Sho...	OMIM:102370
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Joint dislocation, Scapular winging, Microretrognathia, Single transverse palmar cr...	OMIM:618870
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Mucolipidosis Iv	Corneal opacity, Achlorhydria, Abnormal abdomen morphology, Optic atrophy, Opacification of the c...	OMIM:252650
Osteoglophonic Dysplasia	Osteopenia, Short neck, Short metatarsal, Short palm, Short phalanx of finger, Broad metacarpals,...	OMIM:166250
Gaucher Disease	Osteopenia, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Increased bone mineral d...	ORPHA:355
White Forelock With Malformations	Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge...	ORPHA:2475
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hyperextensibility at wrists, Rec...	OMIM:601492
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Cofs Syndrome	Abnormality of retinal pigmentation, Cataract, Camptodactyly of finger, Joint stiffness, Sensorin...	ORPHA:1466
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Dilated cardiomyopathy, Flexion contracture, Micropenis, Developmen...	OMIM:618815
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Decreased nerve cond...	ORPHA:812
Majeed Syndrome	Osteomyelitis, Anemia of inadequate production, Microcytic anemia, Flexion contracture, Hepatospl...	OMIM:609628
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Ethanolaminosis	Cardiomegaly	OMIM:227150
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Facial palsy, Craniosy...	OMIM:259700
Lowry-Maclean Syndrome	Osteopenia, Hypospadias, Corneal opacity, Craniosynostosis, Abnormality of the abdominal organs, ...	ORPHA:2409
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurr...	OMIM:610682
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Mesoaxial polydactyly, Short fourth metatarsal, Bone spicule pigmentatio...	OMIM:615994
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of t...	ORPHA:1901
Slipped Femoral Capital Epiphyses	Hip osteoarthritis, Proximal femoral epiphysiolysis	OMIM:182260
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi...	OMIM:114300
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs	ORPHA:66630
Mosaic Trisomy 14	Camptodactyly of finger, Short neck, Micrognathia, Abnormal rib morphology, Narrow chest, Bilater...	ORPHA:1703
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Retinal dysplasia, Microphthalmia...	ORPHA:324416
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Micrognathia, C...	ORPHA:313855
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Facial palsy, Hydrocephalus, Flexion contracture, Developmental cataract, Macr...	OMIM:613155
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ...	ORPHA:1517
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Micrognathia, Absent frontal sinuses, Tall ...	OMIM:102500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
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
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Gómez-López-Hernández Syndrome	Hydrocephalus, Corneal opacity, Low-set ears	ORPHA:1532
Ankylosing Vertebral Hyperostosis With Tylosis	Abnormality of the vertebral column, Osteoarthritis, Palmoplantar keratoderma, Abnormal pelvis bo...	ORPHA:2206
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Eczema, Pectus excavatum, Allergic r...	OMIM:618162
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Pseudopseudohypoparathyroidism	Short metacarpal, Short neck, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Scheie Syndrome	Spondylolisthesis, Short neck, Retinal degeneration, Genu valgum	OMIM:607016
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemophagocytosis, ...	OMIM:603552
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal wide...	OMIM:612813
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Ventriculomegaly, Cataract, Camptodactyly of finger, Osteoporosis, Microcornea, Microphthalmia, A...	ORPHA:48431
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Thin ribs	ORPHA:169189
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Micrognathia, Generalized joint laxity, Abnormal optic disc morph...	ORPHA:508498
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Micromelia, Postaxial polydactyly, Short neck, Preaxial polydactyly, Retinal c...	OMIM:616546
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Metaphyseal widening, T lymphocytopenia, Irregular vertebral endp...	OMIM:607944
Microcephalic Primordial Dwarfism, Toriello Type	Neutropenia, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Braddock Syndrome	Short neck, Pectus excavatum, Preaxial hand polydactyly, Missing ribs, Micrognathia, Hemivertebra...	ORPHA:52047
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Otopalatodigital Syndrome Type 2	Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin...	ORPHA:90652
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Bowing of...	ORPHA:1855
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed calcaneal ossification, ...	OMIM:183900
Pseudo-Torch Syndrome 2	Thrombocytopenia, Thin ribs	OMIM:617397
Shox-Related Short Stature	Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth...	ORPHA:314795
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia,...	ORPHA:397596
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Cartilage-Hair Hypoplasia	Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Joint lax...	OMIM:250250
Stromme Syndrome	Accessory spleen, Cataract, Jejunal atresia, Optic nerve hypoplasia, Intestinal malrotation, Scle...	OMIM:243605
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, C...	ORPHA:79345
Bardet-Biedl Syndrome 2	Postaxial foot polydactyly, Postaxial hand polydactyly, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Congenital hepatic fibrosis, Ch...	ORPHA:3156
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m...	ORPHA:98870
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Upper limb asymmet...	ORPHA:64755
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P...	ORPHA:3082
Griscelli Syndrome	Encephalocele, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hydrocephalus, P...	ORPHA:381
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Short long bone, Scoliosis, Short palm, ...	OMIM:619184
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint ...	ORPHA:2655
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Ventricular septal defect, Joint hypermobility, Joint stiffness, Splenomegaly, Clef...	OMIM:620210
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Premature osteoarthritis, Platyspondyly	OMIM:184840
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc...	OMIM:613686
Multiple Sulfatase Deficiency	Hepatomegaly, Ventriculomegaly, Corneal opacity, Splenomegaly, Hydrocephalus, Mucopolysaccharidur...	OMIM:272200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Low-frequency sensorineural hearing impairment, Hepatosplenomegal...	OMIM:613101
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Mosaic Trisomy 9	Hypoplasia of penis, Asplenia, High palate, Endocardial fibroelastosis, Atrial septal defect, Dan...	ORPHA:99776
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:614500
Gm1 Gangliosidosis	Camptodactyly of finger, Joint stiffness, Abnormal retinal vascular morphology, Splenomegaly, Hyp...	ORPHA:354
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft palate, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hearing...	OMIM:120433
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Cerebrooculofacioskeletal Syndrome 3	Cleft palate, Low-set ears, Microphthalmia, Arthrogryposis multiplex congenita, Ventriculomegaly	OMIM:616570
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Mucopolysaccharidosis Type 1	Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Malabsorption, Join...	ORPHA:579
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Cohen Syndrome	Short metacarpal, Thoracic scoliosis, Bone spicule pigmentation of the retina, Single transverse ...	OMIM:216550
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, ...	ORPHA:3068
Galactose Epimerase Deficiency	Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Congenital Muscular Dystrophy, Fukuyama Type	Cataract, Camptodactyly of finger, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Flexion ...	ORPHA:272
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Retinal degeneration	OMIM:614322
Multicentric Reticulohistiocytosis	Arthritis, Histiocytosis	ORPHA:139436
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration	OMIM:601780
Muckle-Wells Syndrome	Episcleritis, Skin rash, Camptodactyly of finger, Splenomegaly, Optic atrophy, Uveitis, Arthritis...	ORPHA:575
Sclerosteosis 1	Syndactyly, Papilledema, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Optic atroph...	OMIM:269500
Antley-Bixler Syndrome	Arachnodactyly, Recurrent fractures, Craniosynostosis, Joint stiffness, Camptodactyly of finger, ...	ORPHA:83
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Rhizomelia, Hemivertebrae, Vertebral segmentation defect, Narrow chest	OMIM:617661
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Pectus exca...	OMIM:618150
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Hepatomegaly, Optic disc pallor, Facial palsy, R...	OMIM:611490
Laron Syndrome	Limb undergrowth, Abnormal joint morphology, Short long bone	OMIM:262500
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia	OMIM:618356
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Retinal thinning, Coxa valga, Genu valgum, Asteroid hyalosis, Short phalanx...	OMIM:132450
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Pfapa Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Lymphadenopathy, Arthritis	ORPHA:42642
Hydrocephalus, Congenital, 1	Hydrocephalus, Ventriculomegaly	OMIM:236600
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Flynn-Aird Syndrome	Increased bone mineral density, Cataract, Joint stiffness, Osteoporosis, Increased bone density w...	OMIM:136300
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract, High palate	ORPHA:2528
Kleeblattschaedel	Recurrent corneal erosions, Hydrocephalus, Elbow ankylosis, Craniosynostosis	OMIM:148800
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventriculomegaly, Ventricular septal d...	OMIM:614576
Proteus Syndrome	Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Calvarial hyperostosis, Lymphangioma, Faci...	OMIM:176920
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Os odontoideum, Optic disc pallor, Macular coloboma, Macular atrophy, Geographic atrophy, Irregul...	OMIM:619260
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu...	OMIM:617406
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Missing ribs, Short neck, Abnormality of the spleen, Micrognathia, Abnor...	ORPHA:1834
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Short neck, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Th...	ORPHA:488434
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Chronic oral candidiasis, Psoriasiform dermatitis, Optic nerve hypoplasia, Hyperlordo...	ORPHA:221139
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Periostitis, ...	OMIM:612852
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pectus excavatum, Perianal abscess, Small hand, Pectus carinatum, Broad finger, Clinodactyly, Sho...	OMIM:614684
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Trichothiodystrophy	Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c...	ORPHA:33364
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari...	OMIM:617519
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal...	ORPHA:3250
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Retrobulbar optic neuritis,...	ORPHA:1451
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Chorioretin...	OMIM:305600
3C Syndrome	Finger syndactyly, Missing ribs, Short neck, Kyphosis, Micrognathia, Optic atrophy, Hemivertebrae...	ORPHA:7
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa	OMIM:268010
Atypical Teratoid Rhabdoid Tumor	Hydrocephalus, Limitation of joint mobility	ORPHA:99966
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Ceroid Lipofuscinosis, Neuronal, 2	Retinal degeneration	OMIM:204500
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Missing ribs	ORPHA:1759
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Conductive hearing impairment, ...	ORPHA:580
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Hydrocephalus, Ventriculomegaly	OMIM:615938
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Reduced bone m...	ORPHA:848
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Micromel...	ORPHA:2176
Pantothenate Kinase-Associated Neurodegeneration	Osteopenia, Bull's eye maculopathy, Acanthocytosis, Fractures of the long bones, Optic atrophy, P...	ORPHA:157850
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Hydrocephalus	ORPHA:2807
Vitamin K Antagonist Embryofetopathy	Cataract, Myelomeningocele, Hydrocephalus, Optic atrophy, Macroglossia, Epiphyseal stippling, Mic...	ORPHA:1914
Spondylo-Ocular Syndrome	Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Osteopor...	ORPHA:85194
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossificatio...	ORPHA:93271
Pineocytoma	Hydrocephalus, Increased CSF protein concentration	ORPHA:251912
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Chromosome 8Q12.1-Q21.2 Deletion Syndrome	Hydrocephalus	OMIM:600257
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, Short neck, Micrognathia, Short toe, Flexion contracture, Pectus carinatum, Ta...	ORPHA:98791
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Joint dislocation, Aplastic an...	ORPHA:221016
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
2Q24 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Abnormality iris morphology...	ORPHA:1617
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology,...	OMIM:602196
Immunodeficiency 75 With Lymphoproliferation	Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H...	OMIM:619126
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Short femur, Pneumonia, Delayed closure of the anterior fontanelle, Shor...	OMIM:264090
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2	Hydrocephalus, Ventriculomegaly	OMIM:615937
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Joint hyperflexibility, Platysp...	ORPHA:93274
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Increased vertebral height, Vacuolated lymphocytes, Femoral bowing, Pectus carinatu...	OMIM:248500
Caudal Regression Syndrome	Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Scheie Syndrome	Hepatomegaly, Corneal opacity, Joint stiffness, Splenomegaly, Sensorineural hearing impairment, L...	ORPHA:93474
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ...	ORPHA:1067
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Wide anterior fontanel, Ulnar bowing, Shortening of all dis...	OMIM:619135
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Lumbar scoliosis...	ORPHA:319675
Hurler Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Campt...	ORPHA:93473
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Joint stiffness, As...	OMIM:252920
Fish-Eye Disease	Splenomegaly, Corneal opacity, Lymphadenopathy, Hepatomegaly	ORPHA:79292
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine a...	OMIM:618805
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Megalencephaly, Autosomal Dominant	Hydrocephalus	OMIM:155350
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Meckel Syndrome	Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Dandy-...	ORPHA:564
Proteus-Like Syndrome	Communicating hydrocephalus, Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Hydr...	ORPHA:2969
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia	ORPHA:2582
Osteopetrosis, Autosomal Recessive 5	Extramedullary hematopoiesis, Hepatomegaly, Increased bone mineral density, Facial palsy, Leukocy...	OMIM:259720
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Cole-Carpenter Syndrome	Bowing of the long bones, Crumpled long bones, Recurrent fractures, Micrognathia, Kyphosis, Abnor...	ORPHA:2050
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Osteoporosis, Cardiomyop...	OMIM:235200
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	EEG abnormality, Hydrocephalus, Hearing impairment	ORPHA:1008
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:1574
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-...	OMIM:617088
Coccidioidomycosis	Abnormality of the spleen, Abnormal long bone morphology, Morbilliform rash, Broad ribs, Abscess,...	ORPHA:228123
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel...	ORPHA:98848
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Abnormal rib morph...	ORPHA:667
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Sensorineural hearing impairment, Optic disc...	OMIM:204000
Craniotelencephalic Dysplasia	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Craniosynostosis, Hydrocephalus, Fronta...	ORPHA:1528
Werner Syndrome	Low back pain, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Retinal degen...	OMIM:277700
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Macu...	OMIM:270200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Anti-Glomerular Basement Membrane Disease	Retinal detachment, Arthritis, Anemia	ORPHA:375
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior...	OMIM:225410
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, CSF pleocytosis, Increased CSF interferon alpha, Th...	OMIM:615010
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Oliver-Mcfarlane Syndrome	Pigmentary retinopathy, Retinal degeneration	OMIM:275400
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Eczema, Short neck, Pectus excavatum, Osteo...	ORPHA:488632
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s...	ORPHA:221008
Ritscher-Schinzel Syndrome 1	Syndactyly, Micrognathia, Hemivertebrae, Missing ribs	OMIM:220210
Cousin Syndrome	Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
Optic Atrophy 8	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic atrophy, Prolonged s...	OMIM:616648
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th...	ORPHA:957
Craniofacial Conodysplasia	Hydrocephalus	ORPHA:85168
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Block vertebrae, Missing ribs, Optic dis...	ORPHA:50
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl...	OMIM:224120
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Skin rash, Aplastic anem...	ORPHA:2909
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Cystinosis	Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Malabsorption, Rickets, R...	ORPHA:213
Cat Eye Syndrome	Biliary atresia, Chorioretinal coloboma, Vesicoureteral reflux, Atrial septal defect, Iris colobo...	OMIM:115470
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Cinca Syndrome	Papilledema, Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomeg...	OMIM:607115
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Maternal Uniparental Disomy Of Chromosome 1	Hepatomegaly, Pancytopenia, Cataract, Uplifted earlobe, Epiphyseal stippling, Gastroesophageal re...	ORPHA:251009
Oculofaciocardiodental Syndrome	Retinal detachment, Cataract, Intestinal malrotation, Ectopia lentis, Sensorineural hearing impai...	ORPHA:2712
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome	Hydrocephalus	ORPHA:2703
Kerion Celsi	Lymphadenopathy	ORPHA:499
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Bronchiectasis, Arthritis, Recurrent otitis media, Malar rash, An...	OMIM:620321
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl...	ORPHA:398124
Laron Syndrome	Micrognathia, Short toe, Osteoarthritis, Abnormality of the elbow, Brachydactyly	ORPHA:633
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Optic disc coloboma, Bell-shaped thorax...	OMIM:600092
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Splenomegal...	ORPHA:583
Pseudo-Torch Syndrome 1	Increased CSF protein concentration, Hepatomegaly, Renal insufficiency, Ventriculomegaly, Elevate...	OMIM:251290
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal form of t...	ORPHA:3429
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ...	OMIM:249420
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:86893
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Keratitis, Tibial bowing, C...	ORPHA:453510
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Cone-shaped epiphyses of the phalanges ...	OMIM:617781
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad...	ORPHA:171866
Congenital Fibrinogen Deficiency	Splenic rupture, Volvulus, Developmental cataract, Left ventricular hypertrophy, Microphthalmia, ...	ORPHA:335
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Choroidal neovascularization, Joint hypermobility	OMIM:608895
Fried Syndrome	Hydrocephalus, High palate, Abnormal optic nerve morphology, Macrotia, Hearing impairment	ORPHA:85335
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Developmental And Epileptic Encephalopathy 28	Hand clenching, Optic atrophy, Retinal degeneration	OMIM:616211
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Beemer Lethal Malformation Syndrome	Hydrocephalus, Thrombocytopenia	OMIM:209970
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Renpenning Syndrome	Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty...	ORPHA:3242
Simpson-Golabi-Behmel Syndrome, Type 1	Pectus carinatum, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Short ...	OMIM:312870
Cat-Eye Syndrome	Chorioretinal coloboma, Microphthalmia, Iris coloboma, Hydronephrosis, Anal atresia, Hearing impa...	ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Retinal dysplasia, Ventriculomegaly	OMIM:614830
Ceroid Lipofuscinosis, Neuronal, 10	Rod-cone dystrophy, Split hand, Retinal atrophy	OMIM:610127
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck,...	ORPHA:263508
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Autoim...	OMIM:614700
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology...	OMIM:607616
Pierpont Syndrome	Joint laxity, Posteriorly rotated ears, Uplifted earlobe, Microcornea, Microphthalmia, Macrotia, ...	ORPHA:487825
Refsum Disease	Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Splenomegaly, Sensorineural h...	ORPHA:773
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evok...	OMIM:133540
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Joint stiffness, Splenomegaly, Osteop...	ORPHA:465508
Schwartz-Jampel Syndrome	Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Inc...	ORPHA:800
Chudley-Mccullough Syndrome	Severe sensorineural hearing impairment, Hydrocephalus, Ventriculomegaly	OMIM:604213
Rere-Related Neurodevelopmental Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Peters anomaly, Optic ...	ORPHA:494344
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili...	ORPHA:231
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Kyphoscoliosis, Hip dislocation, Neutropenia, Limb undergrowth, Joint contracture	OMIM:618005
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly	OMIM:618709
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Retinal detachment, Occipital encephalocele, Cataract, Optic nerve hypo...	ORPHA:370959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Congenital contracture, Retinal dysplasia, Megalocornea, Dandy-Walker ma...	OMIM:236670
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent	EEG with burst suppression, Hydrocephalus	OMIM:266100
Ceroid Lipofuscinosis, Neuronal, 5	Vacuolated lymphocytes, Retinal degeneration	OMIM:256731
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Hydrocephalus, Autosomal Dominant	Hydrocephalus, Dandy-Walker malformation, Sagittal craniosynostosis	OMIM:123155
Moebius Syndrome	Syndactyly, Brachydactyly, Short neck, Micrognathia, Clinodactyly, Split hand, Abnormal pelvic gi...	OMIM:157900
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Short humerus, Anomalous rib insertion to vertebrae,...	OMIM:117650
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ...	OMIM:267760
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Optic atroph...	OMIM:605282
Hypertrichosis Cubiti	Joint hyperflexibility, Abnormality of the elbow, Rhizomelia, Micromelia	ORPHA:2220
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Jaundice, Optic nerve ...	OMIM:214110
Steel Syndrome	Lumbar hyperlordosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Scoliosis, Carp...	OMIM:615155
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Seckel Syndrome 5	11 pairs of ribs, Micrognathia, Short middle phalanx of finger, Scoliosis, Clinodactyly of the 5t...	OMIM:613823
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Hypophosphatasia, Adult	Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P...	OMIM:146300
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosuria	OMIM:230350
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Cataract, Abnormal pulmonary valve morphology, Portal...	ORPHA:974
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots	OMIM:193230
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cataract, Malabsorption, Splenomegaly, Furrowed tongue, Hamar...	ORPHA:2930
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Abnormal rib morphology, Bronchiect...	ORPHA:1163
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Hepatic steatosis, Hemolytic anemia, Hepato...	OMIM:277900
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Spondylosis, Cervical	Osteoarthritis, Cervical spondylosis, Spondylolysis, Spina bifida occulta, Spondylolisthesis	OMIM:184300
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Thrombocytopenia	OMIM:166990
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Hall-Riggs Syndrome	Joint stiffness, Platyspondyly, Abnormal epiphysis morphology, Scoliosis, Limb undergrowth, Abnor...	ORPHA:2107
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Knee flexion contract...	OMIM:265000
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con...	OMIM:101800
Oslam Syndrome	Radioulnar synostosis, Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Pigmentary retinopathy, Retinal degeneration	ORPHA:3363
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scolio...	ORPHA:2180
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Eczema, Craniosynostosis, Micrognathia, Erythema nodosum, Elbow flexion ...	ORPHA:3132
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Ventricular septal defect, Hydrocephalus, Large earlobe, Microphthalmia, Leukemia, ...	OMIM:602501
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Sclerocornea, Esophage...	ORPHA:77298
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Optic atrophy, Developmental cataract, Corneal opacity	OMIM:617183
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive...	OMIM:302960
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Den...	OMIM:252930
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob...	OMIM:617780
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Rosaï-Dorfman Disease	Osteolysis, Anemia, Lymphadenopathy	ORPHA:158014
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, C...	OMIM:612714
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot...	OMIM:601457
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Genu valgum, Joint hyperflexibility	ORPHA:1035
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin...	OMIM:606851
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hypoplasia of the ear c...	ORPHA:66661
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, ...	OMIM:309900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific...	OMIM:210710
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Xylt1-Cdg	Joint laxity, Joint dislocation, Acne, Coxa valga, Flared metaphysis, Short long bone, Short femo...	ORPHA:370930
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Dextrocardia, Ectopia lentis, Pyloric sten...	ORPHA:1571
Congenital Disorder Of Glycosylation, Type Iid	Hydrocephalus, Elevated circulating aspartate aminotransferase concentration, Dandy-Walker malfor...	OMIM:607091
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Optic neuropathy, Increased intervertebral space, Opti...	OMIM:619727
Cockayne Syndrome A	Ivory epiphyses of the phalanges of the hand, Micropenis, Hepatomegaly, Retinal atrophy, Retinal ...	OMIM:216400
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossificatio...	OMIM:103580
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L...	OMIM:310600
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ...	OMIM:209950
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f...	OMIM:272460
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Joint stiffness, Kyphosis, Inflammatory abnormality of the e...	ORPHA:816
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Joint stiff...	ORPHA:809
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Short neck, Hypoplasia of the odontoid proces...	OMIM:258480
Hemochromatosis, Type 3	Arthritis, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Joint stiffness, Heparan sulfate ...	OMIM:253220
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Intestinal malrotation, Asplenia, Situs inve...	ORPHA:244
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased CSF lactate, EEG abnormality, Hypoglyc...	OMIM:612126
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Sacral dimple, Recurrent fra...	ORPHA:3206
Trisomy 13	Anophthalmia, Ventricular septal defect, Cataract, Abnormal retinal vascular morphology, High, na...	ORPHA:3378
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Recur...	OMIM:619377
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Dent Disease	Enlarged epiphyses, Enlargement of the ankles, Bulging epiphyses, Osteomalacia, Recurrent fractur...	ORPHA:1652
Proteasome-Associated Autoinflammatory Syndrome 3	Myositis, Sinusitis, Skin rash, Thrombocytopenia, Splenomegaly, Flexion contracture, Arthritis, F...	OMIM:617591
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Micromelia, Hepatosplenomegaly	OMIM:273680
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Macular degeneration, Polydactyly, Rod-cone dystrophy, A...	OMIM:613464
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Osteopenia, Retinopathy, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspon...	OMIM:619269
Nasu-Hakola Disease	Hydrocephalus, Bone cyst, Limitation of joint mobility, Functional abnormality of the gastrointes...	ORPHA:2770
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Sacral dimple, Rhizomelia, Abnormality of the hand, Tapered finge...	ORPHA:319182
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Pde4D Haploinsufficiency Syndrome	Joint laxity, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatarsal, Upper li...	ORPHA:439822
Aicardi Syndrome	Retinal detachment, Block vertebrae, Proximal placement of thumb, Missing ribs, Chorioretinal lac...	OMIM:304050
Spastic Paraplegia 11, Autosomal Recessive	Ankle clonus, Macular degeneration, Retinal degeneration, Thenar muscle atrophy	OMIM:604360
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Adducted thumb	ORPHA:50810
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr...	OMIM:613313
Jacobsen Syndrome	Missing ribs, Pectus excavatum, Short neck, Micrognathia, Flexion contracture, Optic atrophy, Mac...	OMIM:147791
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm...	ORPHA:2636
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Ventriculo...	ORPHA:1052
Refsum Disease, Classic	Cataract, Retinal degeneration, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, R...	OMIM:266500
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Elbow flexion contracture, Hydrocephalus, Optic atrophy	OMIM:619470
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Hydrocephalus, Chronic neutropenia, Anemia	OMIM:619302
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Cataract, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia	OMIM:615181
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hydrocephalus, Sensorineural hearing impairm...	OMIM:109120
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia	ORPHA:163596
Microphthalmia, Syndromic 13	Anteverted ears, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:300915
Localized Scleroderma	Fasciitis, Flexion contracture, Upper limb asymmetry, Uveitis, Arthritis, Esophagitis, Sclerosis ...	ORPHA:90289
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Intestinal malrotation, Hypoplastic left atrium, Cleft p...	OMIM:615524
Takayasu Arteritis	Increased inflammatory response, Inflammatory abnormality of the eye, Arthritis, Retinopathy, Anemia	ORPHA:3287
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, O...	ORPHA:1454
Roifman Syndrome	Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Eosinophi...	OMIM:616651
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non...	OMIM:603909
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Conductive hearing impairment, Vesicoureteral ...	OMIM:609053
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis	OMIM:240500
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Posterior embryotoxon, Ventricular septal defect, Posteriorly rotated ears, Hydroce...	OMIM:612582
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Hydrocephalus, Renal hypoplasia, Cleft palate, Pro...	ORPHA:85284
Frontonasal Dysplasia 1	Cataract, Conductive hearing impairment, Anterior basal encephalocele, Joint contracture of the h...	OMIM:136760
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Elbow ankylosis, Abn...	ORPHA:95699
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Sclerocornea, Cataract, Peters anomaly,...	OMIM:309801
Codas Syndrome	Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip dislocation, Proximal plac...	OMIM:600373
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femor...	ORPHA:77258
Alpha-Mannosidosis, Infantile Form	Osteopenia, Optic disc pallor, Pancytopenia, Communicating hydrocephalus, Mixed hearing impairmen...	ORPHA:309282
Lissencephaly 8	Occipital encephalocele, Cataract, Optic atrophy, Microphthalmia, Ventriculomegaly	OMIM:617255
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Poster...	OMIM:610377
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold	OMIM:613517
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Colon cancer, Chronic noninfectious lymphadenopathy, Abnormal lymph node mor...	ORPHA:319487
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice...	OMIM:211600
Cerebrooculofacioskeletal Syndrome 1	Cataract, Sensorineural hearing impairment, Flexion contracture, Osteoporosis, Elbow flexion cont...	OMIM:214150
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Short metacarpal, Lumbar hyperlordosis, Micrognathia, Pectus ex...	OMIM:212720
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl...	OMIM:304150
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho...	OMIM:607765
Cardioacrofacial Dysplasia 1	Limb undergrowth, Long thorax, Postaxial polydactyly, Genu valgum	OMIM:619142
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Colon cancer, Chronic noninfectious lymphadenopathy, Abnormal lymph node mor...	ORPHA:97290
Stickler Syndrome	Joint dislocation, Micrognathia, Osteoarthritis, Uveitis, Reduced bone mineral density, Pectus ca...	ORPHA:828
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thromboc...	OMIM:249270
H Syndrome	Recurrent fractures, Hearing impairment, Microcytic anemia, Malabsorption, Hydrocephalus, Osteoly...	ORPHA:168569
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, 3-Methylglutaconic aciduria, Hy...	ORPHA:496790
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Craniosynostosis, Cardiomegaly	ORPHA:88643
Dpm1-Cdg	Sandal gap, Micrognathia, Optic atrophy, Knee flexion contracture, Hepatosplenomegaly, Camptodact...	ORPHA:79322
Psoriasis-Related Juvenile Idiopathic Arthritis	Finger dactylitis, Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalize...	ORPHA:85436
Fryns Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, A...	ORPHA:2059
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt...	OMIM:615513
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Ne...	OMIM:214900
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Edinburgh Malformation Syndrome	Jaundice, Hydrocephalus	OMIM:129850
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Banki Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Brachydactyly, Synostosis of carp...	ORPHA:1228
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Hydrocephalus, Retinal coloboma, Microphthalmia, Rod-cone dystrophy	OMIM:601794
Lissencephaly 5	Occipital encephalocele, Cataract, Hydrocephalus, Optic atrophy, Hearing impairment	OMIM:615191
Weill-Marchesani Syndrome 1	Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Broad palm, Spinal canal stenosis, Scoli...	OMIM:277600
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Muenke Syndrome	Tarsal synostosis, Short foot, Cone-shaped epiphysis, Short palm, Carpal synostosis, Coronal cran...	ORPHA:53271
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Cataract, Microcytic anemia, Optic atrophy, Low-set ears, Dysphagi...	OMIM:612379
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology	ORPHA:1506
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Reduced bone mineral density, Nephrotic syndrome, Ascite...	ORPHA:834
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Retinal dystrophy, Eosinophilia, Delayed proximal ...	ORPHA:353298
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Broad clavicles, Vitreous floaters, Hyperlordosis, Gen...	OMIM:619698
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis	ORPHA:567544
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Conjunctivitis	OMIM:617772
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Micropeni...	OMIM:602782
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Acne	ORPHA:77296
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Hearing impairment, Protruding ear	ORPHA:317
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi...	OMIM:277300
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Camptodactyly of finger, Joint stiffness, Heparan sulfate excretio...	OMIM:607015
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom...	OMIM:215250
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Rec...	ORPHA:47
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, CSF pleocytosis, Sensorineur...	ORPHA:540
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis	OMIM:613490
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Fabry Disease	Conjunctival telangiectasia, Corneal dystrophy, Reduced bone mineral density, Nephropathy, Achala...	ORPHA:324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropen...	ORPHA:79312
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Abse...	ORPHA:90321
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, High palate, Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Hyp...	OMIM:614866
Pyruvate Dehydrogenase E1-Alpha Deficiency	Single transverse palmar crease, Cerebellar gliosis, Flexion contracture, Gliosis, Limb undergrow...	ORPHA:79243
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Missing ribs, Lumbar hemivertebrae, Talipes equinovarus, Clinodactyly of the 5th finger	OMIM:619859
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx,...	OMIM:616331
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Posteriorly rotated ears, Unilateral renal agenesis, High, narrow pala...	OMIM:618494
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ...	ORPHA:75564
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Sensorineural hearing impair...	ORPHA:3226
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Carpenter Syndrome 1	Microcornea, High palate, Conductive hearing impairment, Atrial septal defect, Spina bifida occul...	OMIM:201000
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Hepatic steatosis, H...	OMIM:278000
Overlap Myositis	Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Arthritis, ...	ORPHA:206572
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial hand polydactyly, A...	ORPHA:1120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Developmental cataract, EEG abnormality, Perimembranous ventr...	OMIM:618804
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Hepatomegaly, Renal insufficiency, Gastrointestinal he...	ORPHA:85450
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Cockayne Syndrome Type 3	Flexion contracture, Microcornea, Lentiglobus, Gastroesophageal reflux, Adult onset sensorineural...	ORPHA:90324
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea...	ORPHA:300298
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Optic atrophy	OMIM:274270
Mucopolysaccharidosis Type 7	Corneal opacity, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Mucopolysacchari...	ORPHA:584
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Pectu...	OMIM:130000
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Sanjad-Sakati Syndrome	Low-set, posteriorly rotated ears, Intestinal obstruction, Hypoplasia of penis, Corneal opacity, ...	ORPHA:2323
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Abnormality o...	ORPHA:1926
Fanconi Anemia, Complementation Group R	Radial dysplasia, Hydrocephalus, Bone marrow hypocellularity, Microphthalmia, Anal atresia, Pelvi...	OMIM:617244
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th...	OMIM:152700
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm...	OMIM:614813
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Conductive ...	OMIM:244300
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Long palm, T...	ORPHA:2215
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventriculomegaly, Ventricular septal defect, Macular atrophy, Pro...	OMIM:619418
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Arthritis, Recurrent aphthous stomatitis	OMIM:611762
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Short neck, Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, B...	ORPHA:436245
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Morquio Syndrome C	Corneal opacity	OMIM:252300
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Morm Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:75858
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Dense ca...	OMIM:252900
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ...	OMIM:616959
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Astigmatism, High palate, Abnormal auditory evoked potentials	OMIM:617523
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Immunodeficiency 61	Recurrent otitis media, Arthritis, Recurrent sinusitis	OMIM:300310
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ventriculomegaly, Villous atrophy, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia,...	OMIM:304790
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, M...	OMIM:620005
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:277410
Adult-Onset Still Disease	Pericarditis, Neutrophilia, Skin rash, Cartilage destruction, Myocarditis, Leukocytosis, Splenome...	ORPHA:829
Kinsship Syndrome	Osteopenia, Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Micrognathia,...	OMIM:619297
3Q29 Microduplication Syndrome	Cataract, Ventricular septal defect, Craniosynostosis, Sclerocornea, Camptodactyly of toe, Cleft ...	ORPHA:251038
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Microphthalmia, Retinal dysplasia	OMIM:615771
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Osteoarthritis, Bronchiectasis, Small thenar eminence, Joint hypermobility	OMIM:620080
Diffuse Cutaneous Systemic Sclerosis	Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Cataract, Sclerocornea, Sensorineural hearing impairment, Microc...	ORPHA:139471
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Hearing impair...	OMIM:610023
Incontinentia Pigmenti	Finger syndactyly, Retinal detachment, Skin rash, Camptodactyly of finger, Abnormal chorioretinal...	ORPHA:464
Emanuel Syndrome	High palate, Gastroesophageal reflux, Atrial septal defect, Micropenis, Joint contracture, Dandy-...	OMIM:609029
Abcd Syndrome	Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc...	OMIM:600501
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp...	OMIM:603903
Pierpont Syndrome	Posteriorly rotated ears, Large fleshy ears, Microcornea, Microphthalmia, Micropenis, Hearing imp...	OMIM:602342
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology, Acu...	ORPHA:281090
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:2584
Autosomal Agammaglobulinemia	Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri...	ORPHA:33110
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Orofaciodigital Syndrome Xiv	Microretrognathia, Broad hallux, Retinitis, Micrognathia, Postaxial hand polydactyly, Optic disc ...	OMIM:615948
Immunodeficiency 96	Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu...	OMIM:619774
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Pancytopenia, Mitral valve calcification, Ventriculomegaly, Corneal opacity, Abnorma...	ORPHA:2072
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni...	ORPHA:79477
Mandibuloacral Dysplasia With Type B Lipodystrophy	Micrognathia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of t...	OMIM:608612
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Macular degeneration, Choroidal neovascularization, Congenital bilateral hip dislocation	ORPHA:404451
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabul...	OMIM:610442
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Osteoarthritis, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Sydenham Chorea	Septic arthritis, Endocarditis	ORPHA:306731
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ...	OMIM:206920
Familial Dysautonomia	Abnormal peritoneum morphology, Renal insufficiency, Orthostatic hypotension, Corneal opacity, Re...	ORPHA:1764
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Pectus carinatum, Arthritis, Anterior...	ORPHA:93
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia	OMIM:618107
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217085
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Normal pressure hydrocephalus, Ventriculomegaly	OMIM:611808
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618261
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure	ORPHA:75234
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Sensorineural hearing impairment, Low-set ears, Peters a...	OMIM:618652
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Posteriorly rotated ears, Left atrial enl...	OMIM:300280
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Crouzon Syndrome	Hydrocephalus, Optic atrophy, Narrow palate, Multiple suture craniosynostosis, Conjunctivitis, Co...	ORPHA:207
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypop...	OMIM:151050
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Cholangitis, Colitis, Neutrophilia, Ankle swelling, Leukocytosis, Clubbing, Chroni...	ORPHA:3260
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Knee flexion contracture, Astigmatism, Camptodactyly, Microphthalmia, Macrotia	OMIM:619694
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612462
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormal limb bone morphology, Abnormality of macular pigmentation	ORPHA:1573
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Short long bone, Talipes equin...	OMIM:224410
Mogs-Cdg	Hepatomegaly, Absent brainstem auditory responses, Cardiomegaly, Sensorineural hearing impairment...	ORPHA:79330
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Dandy-Walker Malformation With Postaxial Polydactyly	Dilated fourth ventricle, Hydrocephalus, Chorioretinal atrophy, Low-set ears, Aortic valve stenos...	OMIM:220220
Oculocerebral Hypopigmentation Syndrome, Cross Type	Ureteral stenosis, Corneal opacity, Cataract, Sensorineural hearing impairment, Limitation of joi...	ORPHA:2719
Cortical Dysplasia, Complex, With Other Brain Malformations 9	EEG abnormality, Hydrocephalus, Optic atrophy, Hypsarrhythmia	OMIM:618174
Premature Ovarian Failure 12	Microphthalmia, Macular dystrophy	OMIM:616947
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy...	OMIM:206100
Warburg Micro Syndrome 3	Cataract, Flexion contracture, Optic atrophy, Narrow palate, Developmental cataract, Microcornea,...	OMIM:614222
Papillorenal Syndrome	Renal cyst, Macular degeneration, Vesicoureteral reflux, Joint laxity, Multicystic kidney dysplas...	OMIM:120330
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217093
Hsd10 Disease, Infantile Type	Cardiomegaly, Gastrointestinal dysmotility, Optic atrophy, Increased CSF lactate, Dysphagia, Abno...	ORPHA:391428
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Dextrocardia	Meckel diverticulum, Dextrocardia, Intestinal malrotation, Situs inversus totalis, Abnormality of...	ORPHA:1666
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Arthritis, Cirrhosis	OMIM:602390
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Femoral bowing, Sh...	OMIM:617022
Schimke Immuno-Osseous Dysplasia	Proteinuria, Corneal opacity, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocy...	ORPHA:1830
Krabbe Disease	Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, E...	OMIM:245200
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly	OMIM:618982
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, Patchy reduction...	ORPHA:221120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, Flexion contra...	OMIM:615249
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Narrow chest	ORPHA:1861
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante...	OMIM:269400
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Knee flexion contracture, High palate, Macrovesicular hepatic...	OMIM:608836
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Iris hypopigmentation, Abnormality of neutrophils, Hydrocephalus, Ocular albinism, Redu...	ORPHA:2720
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R...	OMIM:221900
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p...	ORPHA:97360
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Malabsorption, Myocarditis, Splenomegaly...	ORPHA:3452
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract...	OMIM:608328
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri...	OMIM:609637
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Cardiomegaly, Oligosacchariduria, Gastroesophageal reflux, Hearing impairment	ORPHA:3137
Joubert Syndrome 21	Splenomegaly, Optic atrophy, Megalopapilla, Bell-shaped thorax, Short ribs, Retinopathy, Chronic ...	OMIM:615636
Image Syndrome	Metaphyseal dysplasia, Micromelia	ORPHA:85173
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A...	OMIM:601859
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo...	OMIM:619644
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Decreased nerve conduction velocity, Thr...	OMIM:214500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Retinal detachment, Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy...	OMIM:253800
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Epispadias, Vitritis, Retinal dysplasia, Abn...	ORPHA:2556
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Microph...	ORPHA:209956
Curry-Jones Syndrome	Intestinal malrotation, Craniosynostosis, Optic disc coloboma, Microphthalmia, Iris coloboma, Ven...	ORPHA:1553
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Autosomal Dominant Spastic Paraplegia Type 36	Arthritis	ORPHA:320365
Ehlers-Danlos Syndrome, Hypermobility Type	Joint laxity, Osteoarthritis, Joint dislocation, Joint hypermobility	OMIM:130020
Graft Versus Host Disease	Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula...	ORPHA:39812
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Cleft palate, Polycys...	OMIM:613885
Coach Syndrome 1	Encephalocele, Optic disc pallor, Hepatomegaly, Occipital encephalocele, Elevated hepatic transam...	OMIM:216360
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Osteoarthritis, Abnormal intervertebral disk morphology, Platyspondyly, Joint stiffness	ORPHA:1345
Raine Syndrome	Increased bone mineral density, Bowing of the long bones, Micromelia, Short neck, Pectus excavatu...	OMIM:259775
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Maternal Uniparental Disomy Of Chromosome 2	Preaxial hand polydactyly, Contractures of the large joints, C1-C2 vertebral abnormality, Abnorma...	ORPHA:96179
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Posteriorly rotated ears,...	ORPHA:2328
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho...	OMIM:301078
Developmental And Epileptic Encephalopathy 1	EEG with burst suppression, Hypsarrhythmia, Dysphagia, Microphthalmia, Micropenis, Ventriculomegaly	OMIM:308350
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Cataract, Retinal pigment epithelial mottling, Methylmalo...	OMIM:614105
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix	OMIM:617068
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Recurrent fractures, Abnormal retinal morphology, Micrognathia, Pe...	ORPHA:2785
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Pigmentary retinopathy, Osteoporosis, Rickets	OMIM:560000
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Cerebrotendinous Xanthomatosis	Osteopenia, Optic disc pallor, Juvenile cataract, Optic neuropathy, Abnormal auditory evoked pote...	ORPHA:909
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Fucosidosis	Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduri...	ORPHA:349
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Methylmalonic Acidemia With Homocystinuria	Hydrocephalus, Retinopathy	ORPHA:26
Mosaic Trisomy 8	Camptodactyly of finger, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib mor...	ORPHA:96061
Rhabdoid Tumor	Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia	ORPHA:69077
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hydrocephalus, Low-set ears, Dandy-Wal...	ORPHA:79332
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Optic disc pallor, Posteriorly rotated ears, Atrial septal defect, Micro...	OMIM:300887
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Retinal detachment, Cataract, Posteriorly rotated ears, Hydrocephalus, Optic atrophy, Colpocephal...	OMIM:619833
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Cl...	OMIM:611134
Mccune-Albright Syndrome	Pancytopenia, Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Abnormal femur m...	ORPHA:562
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Spl...	ORPHA:91138
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Hepatomegaly, Sagittal craniosynostosis, Portal hypertension, Pancreatic cysts, Splen...	OMIM:610199
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Bilateral cleft lip and palate, Popliteal pterygium, Low-...	OMIM:619339
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Osteopathia Striata With Cranial Sclerosis	Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th finger, B...	OMIM:300373
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Subependymal cysts, Aminoaciduria, High palate, Intrahepatic biliary dysgene...	OMIM:214100
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Recurrent fractures, Optic atrophy, R...	OMIM:268315
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H...	OMIM:615122
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Bardet-Biedl Syndrome 1	Attenuation of retinal blood vessels, Syndactyly, Bone spicule pigmentation of the retina, Retina...	OMIM:209900
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R...	OMIM:616108
Harderoporphyria	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Protruding ear, Developmental cataract, Lateral ventricle dilatatio...	OMIM:614219
Familial Cold Autoinflammatory Syndrome 1	Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis	OMIM:120100
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Micrognathia, Periodontitis, Chronic otitis media, Osteomalacia, Abnorma...	ORPHA:534
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Dandy-Walker malformation, Hepatomegaly, Portal...	OMIM:208540
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Corneal opacity, Cardiomegaly, Hydrocephalus, Optic atro...	ORPHA:137675
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Cataract, Pyloric stenosis, Abdominal adhesions, Developmental cataract, Low-set ear...	OMIM:616395
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Desmosterolosis	Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Spleno...	ORPHA:35107
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, ...	OMIM:615895
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Cardiomyopa...	ORPHA:1215
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris...	OMIM:309300
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Vesicoureteral reflux, Atri...	ORPHA:567
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy...	OMIM:616145
10Q22.3Q23.3 Microduplication Syndrome	Chronic otitis media, Abnormal clavicle morphology, Microretrognathia, Abnormal rib morphology	ORPHA:276422
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Decreased CSF biopterin level, Reduced bone mineral density, De...	ORPHA:404454
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Anal atresia	ORPHA:3469
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Bull's eye maculopathy, Short neck, Micrognathia, Hemive...	OMIM:213980
Myhre Syndrome	Craniofacial hyperostosis, Joint stiffness, Abnormal rib morphology, Platyspondyly, Abnormal epip...	ORPHA:2588
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax...	ORPHA:435638
Hsd10 Mitochondrial Disease	Optic atrophy, Retinal degeneration	OMIM:300438
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Hy...	OMIM:614800
Fg Syndrome Type 1	Limited elbow extension and supination, Hypospadias, Optic nerve hypoplasia, Craniosynostosis, Ab...	ORPHA:93932
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Absence of lymph node germinal center, Autoimmune thr...	OMIM:608184
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:33226
Hartsfield Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Craniosynostosis, Cleft palate, Lobar holoprose...	ORPHA:2117
Emanuel Syndrome	Multiple joint contractures, High palate, Gastroesophageal reflux, Atrial septal defect, Micropen...	ORPHA:96170
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ...	OMIM:604229
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Portal fibrosis, Hepat...	OMIM:619111
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Hepatomegaly, Abnormality of retinal pigmentation, Elevated hepatic ...	ORPHA:14
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Rock...	ORPHA:79474
Gaucher Disease, Type I	Pancytopenia, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenomegaly, Pathologic fracture...	OMIM:230800
Temtamy Syndrome	Joint hyperflexibility, Low-set ears, Chorioretinal coloboma, Microphthalmia, Iris coloboma	ORPHA:1777
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Craniosynostosis, Hydrocephalus, Abnormal heart morphology, Camptodactyly of toe, Jo...	OMIM:175700
Tangier Disease	Orange discolored tonsils, Corneal opacity, Chronic noninfectious lymphadenopathy, Hepatosplenome...	ORPHA:31150
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Posteriorly rotated ears, Congenital sensorineural hear...	OMIM:617306
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Micrognathia, Vertebr...	ORPHA:1323
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia, Craniosynostosis	OMIM:218670
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Optic neuropathy, Iridocyclitis, Splenomegaly, Bone cyst, Clubbing, Bronchiectasis,...	OMIM:181000
Mmep Syndrome	Microphthalmia, Ventricular septal defect	ORPHA:3434
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Congenital Tufting Enteropathy	Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality...	ORPHA:92050
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Fanconi Anemia	Reduced bone mineral density, Leukopenia, Abnormality of the liver, High palate, Atrial septal de...	ORPHA:84
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Chorioretinal coloboma, Dysphagia, Low...	ORPHA:163961
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Low-set ears, Microphthalmia, Oc...	OMIM:615145
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Opacification of the corneal stroma, Left ventricula...	OMIM:205400
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br...	OMIM:113300
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Cataract, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:35173
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Leukopenia, Conjunctivitis, Atrial septal defect, Patent foramen ovale, Hepa...	ORPHA:505248
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal st...	ORPHA:2470
Andersen Cardiodysrhythmic Periodic Paralysis	Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal,...	OMIM:170390
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Wide anterior fontanel, Kyphosis, Tibial bowing,...	OMIM:616482
Fanconi-Bickel Syndrome	Osteopenia, Bowing of the long bones, Rickets	ORPHA:2088
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis	ORPHA:3165
Tularemia	Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Cervical l...	ORPHA:3392
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat...	ORPHA:158061
Bullous Impetigo	Pustule, Septic arthritis, Recurrent bacterial skin infections	ORPHA:36237
Combined Oxidative Phosphorylation Deficiency 8	EEG abnormality, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Chronic otitis medi...	ORPHA:280
Diencephalic Syndrome	Macrotia, Hydrocephalus, Long penis, Optic atrophy	ORPHA:1672
Congenital Erythropoietic Porphyria	Osteopenia, Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis,...	ORPHA:79277
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Retinal atrophy, Arachnodactyly, Iridocyclitis, Ankle clonus, Pancreatitis, Adducted thumb	ORPHA:412057
Nephronophthisis 18	Retinitis, Hydrocephalus, Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephrit...	OMIM:615862
Attrv30M Amyloidosis	Vitreous floaters, Cardiomegaly, Cardiomyopathy, Abnormal autonomic nervous system physiology, Ne...	ORPHA:85447
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Anophthalmia, Intestinal...	ORPHA:2538
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Retinal degeneration, Pigmentary retinopathy, Aspiration pneumonia	ORPHA:79264
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Hypochromic microcytic anemia, Aort...	ORPHA:97214
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Communicating hydrocephalus, Corneal opacity, Unilateral renal agenesis, Craniosynostosis, Develo...	ORPHA:1064
Loeys-Dietz Syndrome 5	Scapular winging, Arachnodactyly, Eosinophilic infiltration of the esophagus, Kyphoscoliosis, Pec...	OMIM:615582
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m...	ORPHA:2334
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Joubert Syndrome 37	Hepatomegaly, Posteriorly rotated ears, High palate, Low-set ears, Microphthalmia, Micropenis, Hy...	OMIM:619185
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Radio-Renal Syndrome	Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology, Abnormal...	ORPHA:3015
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Marshall Syndrome	Retinal detachment, Micrognathia, Osteoarthritis, Hypoplastic frontal sinuses, Abnormal vitreous ...	ORPHA:560
Nance-Horan Syndrome	Retinal detachment, Cataract, Protruding ear, Microcornea, Microphthalmia	ORPHA:627
Distal Triplication 15Q	Corneal dystrophy, Craniosynostosis, Hydrocephalus, Cupped ear, Sensorineural hearing impairment,...	ORPHA:314588
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Ost...	ORPHA:264580
Hypercholanemia, Familial 1	Rickets	OMIM:607748
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote...	ORPHA:320401
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my...	OMIM:201475
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Corneal opacity, Oral-pharyngeal dysphagia, Heparan ...	OMIM:615273
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen...	ORPHA:2438
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Lesch-Nyhan Syndrome	Anemia, Gout	ORPHA:510
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert...	OMIM:620135
Prune Belly Syndrome	Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def...	ORPHA:2970
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormal retinal morpholo...	ORPHA:33276
Muscle-Eye-Brain Disease	Cataract, Hydrocephalus, Meningocele, Optic atrophy, EEG abnormality, Holoprosencephaly	ORPHA:588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Elevated circulating aspartate aminotransferase concentration, Hydrocephalus, F...	OMIM:613154
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Low-set ears, Hydrocephalus, Craniosynostosis	ORPHA:1516
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
2,4-Dienoyl-Coa Reductase Deficiency	Hydrocephalus, Optic atrophy, Increased CSF lactate, Colpocephaly, Hyperlysinuria, Increased CSF ...	OMIM:616034
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Retinal dystrophy, Comedonal acne, Peripheral retinal atrophy	OMIM:615147
Trisomy 17P	Hypoplasia of penis, Urethral valve, Cataract, Hydrocephalus, Urethral stenosis, Flexion contract...	ORPHA:261290
Diarrhea 5, With Tufting Enteropathy, Congenital	Arthritis	OMIM:613217
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Flexion contracture, Osteoporosis, Rickets, L...	ORPHA:2671
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Coxa vara, Joint hyperflexibility, Narrow pelvis bone, Abnormal epiphysis morphology,...	ORPHA:2637
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morph...	ORPHA:261197
Hajdu-Cheney Syndrome	Osteopenia, Decreased skull ossification, Iris coloboma, Hepatomegaly, Hypospadias, Osteoporosis,...	ORPHA:955
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Increased CSF lactate, High palate, Microphthalmia, Hy...	OMIM:619053
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Esophageal varix, Steatorrhe...	ORPHA:75233
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly	OMIM:609981
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Posteriorly rotated ears, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, High palate, Lo...	OMIM:619750
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Luscan-Lumish Syndrome	Recurrent otitis media, Advanced ossification of carpal bones	OMIM:616831
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Eczema, Missing ribs, Short neck, Short ...	ORPHA:2308
Bacterial Toxic-Shock Syndrome	Fasciitis, Osteomyelitis, Sinusitis, Myositis, Pneumonia, Skin rash, Glomerulonephritis, Recurren...	ORPHA:36234
Arthrogryposis, Distal, Type 2A	Hip contracture, Flexion contracture of finger, Recurrent fractures, Abnormal auditory evoked pot...	OMIM:193700
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Ventriculomegaly, Cardiomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, ...	OMIM:608013
Temtamy Syndrome	Lens luxation, Ectopia lentis, Low-set ears, Chorioretinal coloboma, Microphthalmia, Iris colobom...	OMIM:218340
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia, Hydrocephalus, Hear...	OMIM:620157
Fetal Gaucher Disease	Low-set, posteriorly rotated ears, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the s...	ORPHA:85212
Micro Syndrome	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cata...	ORPHA:2510
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
6Q Terminal Deletion Syndrome	Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Prominent metopic ridge, Short neck,...	ORPHA:75857
Immunodeficiency 31C	Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anem...	OMIM:614162
Duane-Radial Ray Syndrome	Anal stenosis, Cataract, Optic disc hypoplasia, Ventricular septal defect, Aganglionic megacolon,...	OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Ventriculomegaly, Cataract, Remnants of the hyaloid vascular s...	OMIM:614643
Doors Syndrome	11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagittal craniosynostosis, ...	ORPHA:79500
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Precocious costochondral ossification, Opacification of...	OMIM:271630
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Flexion contracture, Optic atrophy, Sensorineural hearing impairment	ORPHA:99947
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Posteriorly rotated ears, Abnormally large globe, Hydrocephalus, Sensorine...	OMIM:239300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Limitation of joint mobility, Duodenal...	ORPHA:2547
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Osteomyelitis, Myositis, Maculopapular exanthema, Pneumonia,...	ORPHA:228119
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Axenfeld-Rieger Syndrome, Type 2	Anal stenosis, Hypospadias, Hydrocephalus, Abnormal heart morphology, Microcornea, Opacification ...	OMIM:601499
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ...	OMIM:607361
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Sensorineural hearing impairment, Overfolded helix, Micropenis, Chorioreti...	OMIM:243310
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Gastroesophageal reflux, Holoprosen...	ORPHA:2162
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Abnormal rib morphology, Abnormal form of the vertebral bod...	ORPHA:52
Congenital Varicella Syndrome	Microphthalmia, Cataract	ORPHA:291
Autosomal Recessive Robinow Syndrome	Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, Chronic otitis media, ...	ORPHA:1507
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr...	ORPHA:158029
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Ventricular septal defect, Hypospadias, Uplifted earlobe, Cleft palate, Furrowed tongue...	OMIM:616449
Keratoendotheliitis Fugax Hereditaria	Epiretinal membrane, Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma	OMIM:148200
Alexander Disease	Microcoria, Hydrocephalus, Increased CSF protein concentration	OMIM:203450
Biemond Syndrome Ii	Hydrocephalus, Iris coloboma	OMIM:210350
Fanconi Anemia, Complementation Group B	Ventriculomegaly, Optic disc hypoplasia, Ventricular septal defect, Aplastic anemia, Esophageal a...	OMIM:300514
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Iris hypopigmentation, Corneal opacity, Sclerocornea, Camptodactyl...	ORPHA:284160
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Corneal opacity, Joint hypermobility, Increased susceptibility to fract...	ORPHA:357058
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Brucellosis	Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit...	ORPHA:1304
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis	ORPHA:157991
Mirage Syndrome	Hypospadias, Radial club hand, Thrombocytopenia, Hydrocephalus, Esophageal stricture, Leukopenia,...	OMIM:617053
Masa Syndrome	Hydrocephalus, Ventriculomegaly	OMIM:303350
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia...	ORPHA:276
Wiedemann-Steiner Syndrome	Joint laxity, Sacral dimple, Tapered finger, Micrognathia, Contracture of the distal interphalang...	OMIM:605130
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Cataract	ORPHA:363741
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Gout, Neutropenia	OMIM:617056
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Bilateral microphthalmos, Multifocal epileptiform discharges, Abnormal...	ORPHA:369891
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Single transverse palmar crease, Pectus excavatum, Flexi...	ORPHA:254528
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma, Ectopic anus, Aplasia/Hypoplasia affecting the eye	ORPHA:1643
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Acro-Renal-Ocular Syndrome	Vertebral fusion, Cataract, Optic disc hypoplasia, Aganglionic megacolon, Radial club hand, Condu...	ORPHA:959
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Subaortic Stenosis-Short Stature Syndrome	Low-set, posteriorly rotated ears, Biliary tract abnormality, Membranous subvalvular aortic steno...	ORPHA:3191
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa...	OMIM:606003
Lathosterolosis	Elevated hepatic transaminase, Cataract, Bilobate gallbladder, Increased mean platelet volume, Ac...	OMIM:607330
Galactosialidosis	Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Cherry red ...	OMIM:256540
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Joint stiffness, Micrognathia, Split hand, Abnormal rib morpho...	ORPHA:1300
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Juvenile rheumatoid arthritis	ORPHA:85414
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip dislocation, Vertebra...	ORPHA:1005
Nephroblastoma	Hematuria, Neoplasm of the liver, Aniridia, Lymphadenopathy	ORPHA:654
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Retinal detachment, Optic disc pallor, Flexion contracture of finger, Ventricular septal defect, ...	ORPHA:464311
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impai...	OMIM:615219
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Morning glory anomaly, Hydroc...	OMIM:614424
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue...	OMIM:601596
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Gastroesophageal r...	ORPHA:191
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Developmental cata...	OMIM:615663
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets, Rachitic rosary	OMIM:612089
Waardenburg Syndrome Type 3	Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly...	ORPHA:896
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, EEG with burst suppression, Sensorineu...	OMIM:617713
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Cataract, Megaloblastic anemia, Sensorineu...	OMIM:222300
Marden-Walker Syndrome	Hypospadias, Dextrocardia, High, narrow palate, Pyloric stenosis, Renal hypoplasia, Cleft palate,...	OMIM:248700
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Cataract, Cleft palate, Protruding ear, Abnormal heart morphology, Astigmatism, Retinal coloboma,...	OMIM:618571
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal...	ORPHA:54251
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt...	OMIM:150550
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Micrognathia, Pectus excavatum, Li...	ORPHA:2990
Mucolipidosis Type Iv	Corneal opacity, Abnormality of retinal pigmentation, Retinopathy, EEG abnormality	ORPHA:578
Microphthalmia, Syndromic 5	Joint laxity, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Cleft palate, Mi...	OMIM:610125
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Micrognathi...	OMIM:122470
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Anterior rib cupping, Seve...	OMIM:102700
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Eczema, Short toe, Short phalanx of finger, Type E bra...	OMIM:600430
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Communicating hydrocephalus, Sideroblastic anemia, Splenomegaly, Sensorineural hearing impairment...	OMIM:616084
Corneal Dystrophy And Perceptive Deafness	Sensorineural hearing impairment, Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Trisomy 10P	Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst...	ORPHA:171929
Cardiomyopathy, Familial Hypertrophic, 27	Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ...	OMIM:618052
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Hydrocephalus, Renal tubular dysfunction, Hepatic failure, Atrial ...	OMIM:614886
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Macrotia, Cardiomegaly	OMIM:300886
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Optic nerve hypoplasia, Missing ribs, Rib fusion, Hemivert...	OMIM:206900
Combined Oxidative Phosphorylation Deficiency 53	Arthritis, Osteomyelitis, Septic arthritis, Hypochromic microcytic anemia	OMIM:619423
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Protruding ear, Development...	OMIM:616603
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic...	ORPHA:42
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus, Hypospadias	ORPHA:141333
Aortic Aneurysm, Familial Thoracic 12	Pectus excavatum, Arthritis, Scoliosis	OMIM:619825
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis...	ORPHA:69126
Meckel Syndrome, Type 2	Encephalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft palate, Bile d...	OMIM:603194
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h...	ORPHA:52368
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Fanconi Anemia, Complementation Group D2	Pancytopenia, Ectopic kidney, Esophageal atresia, Hydrocephalus, Annular pancreas, Reticulocytope...	OMIM:227646
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Infla...	ORPHA:98813
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Hypospadias, Craniosynostosis, Hydrocephalus, Renal hypoplasia, Radioulnar synostosis, Microtia, ...	ORPHA:171839
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Abnormal pinna morphology, Band keratopathy, Hydrocephalus, Hypoplasia of the ...	OMIM:614195
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonale, T lymphocytopenia, Lymph node hyp...	OMIM:300755
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Developmental cataract, Microphthalmia, Micropenis, Hearing im...	OMIM:610756
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Radial club hand, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology...	OMIM:276950
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Arthritis, Crescentic glomerulonephritis	OMIM:616414
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatomega...	ORPHA:699
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange...	ORPHA:710
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation, Hydrocephalus, Bicuspid aortic valve	ORPHA:397951
Monosomy 9Q22.3	Short neck, Pectus excavatum, Palmar pits, Kyphosis, Abnormal rib morphology, Joint hyperflexibil...	ORPHA:77301
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi...	ORPHA:615
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Retinal atrophy, Ulnar deviation of the wrist, Microg...	ORPHA:97297
Blau Syndrome	Xerostomia, Abnormality of the liver, Abnormal optic nerve morphology, Nephropathy, Abnormal sali...	ORPHA:90340
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic...	OMIM:614170
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Otodental Syndrome	High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co...	ORPHA:2791
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Atrial se...	ORPHA:536471
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect	OMIM:608681
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity, Camptodactyly of finger, Cleft palate	ORPHA:1794
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Elevated hepatic transaminase, Glo...	ORPHA:2137
Kimura Disease	Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia	ORPHA:482
Beck-Fahrner Syndrome	Ventricular septal defect, Joint hypermobility, Cardiomegaly, Protruding ear, EEG abnormality, Ex...	OMIM:618798
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Optic atrophy, Talipes equinovarus, Cl...	ORPHA:847
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epi...	ORPHA:1433
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Gm1-Gangliosidosis, Type I	Thickened ribs, Joint stiffness, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypo...	OMIM:230500
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Uveiti...	OMIM:186580
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Short foot, Limb...	OMIM:617809
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Abnormal pinna morphology, Camptodactyly of finger, ...	ORPHA:1692
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinopathy, Retinal pigment epithelial mottling, Rickets	OMIM:219900
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Optic atrophy	ORPHA:352682
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, CSF pleocytosi...	OMIM:603553
Edinburgh Malformation Syndrome	Joint stiffness, Brushfield spots, Hydrocephalus, Low-set ears, Aplasia/Hypoplasia affecting the eye	ORPHA:1895
Limb Body Wall Complex	Encephalocele, Ventricular septal defect, Corneal opacity, Spina bifida, Myelomeningocele, Hydroc...	ORPHA:2369
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Joint laxity, Hydrocephalus	OMIM:236660
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Posteriorly rotated ears, Splenomegaly, Hydr...	OMIM:115150
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Eczema, Osteoporosis, Thyroiditis, Rickets, Iron deficiency anemia, Recurrent ...	OMIM:212750
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Micrognathia, Mesomelia, Prominent fingertip pads, Clinodactyly, Broad ...	OMIM:618529
Trisomy 18	Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Ventricular sep...	ORPHA:3380
1Q44 Microdeletion Syndrome	Optic disc hypoplasia, Intestinal malrotation, Hydrocephalus, Horseshoe kidney, Abnormal cardiac ...	ORPHA:238769
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Sclerocornea, Limbal dermoid, Hydrocephalus, Hypoplasia of the iris, S...	OMIM:613001
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Craniofaciofrontodigital Syndrome	Osteopenia, Gastrointestinal hemorrhage, Joint laxity, Bicuspid aortic valve, Ventricular septal ...	ORPHA:363705
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Optic atrophy, Enlarged kidney, Ane...	OMIM:617303
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy...	ORPHA:1335
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Rat-Bite Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Pericarditis, Osteomyelitis, Recurrent skin inf...	ORPHA:90291
Short Syndrome	Posterior embryotoxon, Corneal opacity, Sensorineural hearing impairment, Abnormal pupil morpholo...	ORPHA:3163
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Cupped ear, Renal hypoplasia, Lateral ventricle dilatation, Joint contracture of t...	OMIM:618914
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Ellis Van Creveld Syndrome	Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Acute leukemia, Abnormal pelvic gi...	ORPHA:289
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrh...	OMIM:620185
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Glycogen Storage Disease Ib	Splenomegaly, Osteoporosis, Gout, Inflammation of the large intestine, Neutropenia, Pancreatitis,...	OMIM:232220
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo...	ORPHA:781
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Glutamine Deficiency, Congenital	Flexion contracture, Micromelia, Camptodactyly	OMIM:610015
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Ma...	OMIM:268800
Pediatric Systemic Lupus Erythematosus	Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangiopathic hem...	ORPHA:93552
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Pyloric stenosis, Hydrocephalus, Horseshoe kidney, Abnorm...	OMIM:218350
Dyskeratosis Congenita	Abnormality of neutrophils, Anorectal anomaly, Hepatomegaly, Osteoporosis, Anemia, Esophageal ste...	ORPHA:1775
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Joubert Syndrome With Ocular Defect	Encephalocele, Low-set, posteriorly rotated ears, Retinal dystrophy, Dextrocardia, Aganglionic me...	ORPHA:220493
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, Elbow dislocation, Micrognathia, Pa...	ORPHA:2554
Cardiospondylocarpofacial Syndrome	Short palm, Brachydactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones	ORPHA:3238
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel...	OMIM:619510
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites	ORPHA:2414
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Mend Syndrome	Cataract, Abnormal auditory evoked potentials, Hydrocephalus, Cleft palate, Abnormal heart morpho...	ORPHA:401973
Meckel Syndrome, Type 1	Occipital encephalocele, Asplenia, Lobulated tongue, Iris coloboma, Dandy-Walker malformation, Ac...	OMIM:249000
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Pseudohypoparathyroidism Type 1C	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck, Short metat...	ORPHA:79444
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Osteolysis, Increa...	OMIM:263700
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Protruding...	ORPHA:904
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Elbow flexion contracture, Hypercalciuria, Developmental cataract, Ma...	OMIM:618440
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Joint stiffness, Joint swelling, Polyarticular arthrit...	OMIM:180300
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Malabsorption, Leukocytosis, Lymphadenopathy, Ac...	ORPHA:99812
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Hydrocephalus, Aganglionic megacolon, Ventriculomegaly	OMIM:304100
Leopard Syndrome 1	Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Short neck, Kyphoscolio...	OMIM:151100
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Abnormal heart morphology	ORPHA:1867
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Se...	OMIM:601455
Paget Disease Of Bone 6	Osteoarthritis, Recurrent fractures	OMIM:616833
Tetrasomy 9P	Joint dislocation, Aplasia/Hypoplasia of the clavicles, Myositis, Hypoplastic scapulae, Pericardi...	ORPHA:3310
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Hydrocephalus, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function...	ORPHA:1333
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Joint stiffness, Short...	OMIM:252940
Glycogen Storage Disease Vii	Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Gout, Reticulocytosis	OMIM:232800
Kindler Epidermolysis Bullosa	Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Flexion contracture, Abnor...	ORPHA:2908
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, High, narrow palate, Cleft palate, Furrowed tongue, Micro...	ORPHA:464738
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Limitation of joi...	ORPHA:343
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Glycopepti...	OMIM:230000
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, CSF pleocytosis, Lymphadenopathy, Anemia, Leukopenia, Hemop...	OMIM:267700
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Dyrk1A-Related Intellectual Disability Syndrome	Optic disc pallor, Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilatera...	ORPHA:464306
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Familial Cold Urticaria	Arthritis, Conjunctivitis	ORPHA:47045
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Pericardial effusion, Lymphadenopath...	ORPHA:2905
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Sensorineural hearing impairment, Cleft palate, Protruding ear, Pigmentar...	OMIM:614230
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Short neck, Micrognathi...	ORPHA:2879
Chime Syndrome	Ventricular septal defect, Corneal opacity, Pulmonary valve atresia, Osteolysis, Cleft palate, Ac...	ORPHA:3474
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Metatarsus adductus, Premature osteoarthritis, 2-3 toe syndactyly, Pectus c...	OMIM:611962
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Anophthalmia, Hypospadias, Abnormal pinna mor...	OMIM:219000
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte...	OMIM:164745
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Postaxial hand polydactyly, Hemivertebrae, 2-3 toe syndactyly, Postaxial foot p...	OMIM:264480
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
Kbg Syndrome	Vertebral fusion, Syndactyly, Single transverse palmar crease, Short neck, Rib fusion, Vertebral ...	OMIM:148050
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice, Hepatitis, E...	ORPHA:549
Fanconi Renotubular Syndrome 2	Osteopenia, Recurrent fractures, Rickets, Osteomalacia	OMIM:613388
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Ventriculomegaly, Proteinuria, Cataract, Hiatus...	OMIM:251300
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Hydr...	ORPHA:228308
Degcags Syndrome	Osteopenia, Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency an...	OMIM:619488
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis	ORPHA:664
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Crouzon Syndrome	Sagittal craniosynostosis, Keratitis, Hydrocephalus, Optic atrophy, High palate, Atresia of the e...	OMIM:123500
Marfan Syndrome	Osteopenia, Retinal detachment, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limite...	ORPHA:558
Kaposiform Lymphangiomatosis	Pericardial effusion, Splenomegaly, Pancreatic cysts, Abnormality of the lymphatic system, Fractu...	ORPHA:464329
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Sagittal craniosynostosis, Hydrocephalus, Cleft palate, Tubulointerstitial nephritis, Enuresis, L...	ORPHA:459061
Immunodeficiency 82 With Systemic Inflammation	Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Decrease...	OMIM:619381
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormality of cartilage of external ear, Bilateral microphthalmos, Cu...	ORPHA:2399
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Cleft palate	OMIM:601349
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Abnormal retinal morphology, Mediastinal lymphadenopathy, Perit...	ORPHA:1546
De Barsy Syndrome	Osteopenia, Cataract, Ventricular septal defect, Corneal opacity, Generalized joint laxity, Large...	ORPHA:2962
Omphalocele-Cleft Palate Syndrome, Lethal	Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Catastrophic Antiphospholipid Syndrome	Myocarditis, Retinal arterial occlusion, Arthritis, Coombs-positive hemolytic anemia, Microangiop...	ORPHA:464343
6P22 Microdeletion Syndrome	Hydrocephalus, Low-set ears, Overfolded helix, Hydronephrosis, Hearing impairment	ORPHA:251046
Frontofacionasal Dysplasia	Encephalocele, Cataract, Brushfield spots, Cleft palate, Microcornea, Limbal dermoid, Microphthal...	ORPHA:1791
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Meningocele, Anisopoikiloc...	ORPHA:46059
Fanconi Anemia, Complementation Group F	Conductive hearing impairment, Vesicoureteral reflux, Renal hypoplasia, Anemia, Leukopenia, Micro...	OMIM:603467
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Warburg Micro Syndrome 2	Cataract, Asymmetry of the ears, Flexion contracture, Optic atrophy, Developmental cataract, Micr...	OMIM:614225
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disea...	ORPHA:650
Hydrocephalus-Obesity-Hypogonadism Syndrome	High, narrow palate, Hydrocephalus, Mitral valve prolapse	ORPHA:2183
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Cataract, Malabsorption, Asplenia, Keratoconjunctiv...	OMIM:240300
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Flexion contracture, Talipes equinovarus, Narrow chest, Scoliosis, Limb underg...	OMIM:619124
Alkuraya-Kucinskas Syndrome	Ventriculomegaly, Cataract, Posteriorly rotated ears, Pericardial effusion, Hydrocephalus, High p...	OMIM:617822
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Absent frontal sinuses, Reduced alpha/beta ...	OMIM:301040
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Osteopetrosis, Hepatomegaly	OMIM:618541
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Abetalipoproteinemia	Retinopathy, Retinal degeneration, Acanthocytosis	OMIM:200100
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Dandy-Walker Syndrome	Dilated fourth ventricle, Hydrocephalus	OMIM:220200
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Arteriosclerosis, Severe Juvenile	Central fundal arteriolar microaneurysms, Central retinal vessel vascular tortuosity, Hip dysplas...	OMIM:208060
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Posteriorly rotated ears, Joint hypermobility, Unilateral renal agenesis, Camptodactyly of finger...	OMIM:619951
Microphthalmia, Lenz Type	Low-set, posteriorly rotated ears, Hydroureter, Hypospadias, Cataract, Camptodactyly of finger, E...	ORPHA:568
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+...	OMIM:606367
Cerebrooculofacioskeletal Syndrome 4	Posteriorly rotated ears, Abnormal retinal morphology, Camptodactyly of finger, Bilateral microph...	OMIM:610758
Cystinosis, Nephropathic	Retinal pigment epithelial mottling, Metaphyseal widening, Splenomegaly, Rickets, Genu valgum, Pi...	OMIM:219800
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Chikungunya	Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Periostitis, Crusting eryt...	ORPHA:324625
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o...	OMIM:239850
Acute Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Sensorineural hearin...	ORPHA:529808
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Cleft palate, Microphthalmia, Dandy-Walker malformation	OMIM:164180
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly	ORPHA:3162
Braddock-Carey Syndrome 2	Cleft palate, Atresia of the external auditory canal, Microphthalmia, Thrombocytopenia, Hearing i...	OMIM:619981
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Hydrocephalus, Pulmonic stenosis, Hypertrophic cardiomyopathy,...	ORPHA:2701
1P36 Deletion Syndrome	11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Abnormality of the spleen, Kyphosis, ...	ORPHA:1606
Myopathy, Centronuclear, X-Linked	Elevated hepatic transaminase, Facial palsy, Pyloric stenosis, Hydrocephalus, Flexion contracture...	OMIM:310400
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, Holoprosencephaly, Atrial sept...	OMIM:270400
Insulin Autoimmune Syndrome	Arthralgia/arthritis	ORPHA:411593
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis...	OMIM:210250
Cohen Syndrome	Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Aplasia/...	ORPHA:193
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Hydrocephalus, Unilambdoid synostosis, Ventriculomegaly	OMIM:618577
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia, Renal hypoplasia	OMIM:615665
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc...	ORPHA:1806
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, External ear malformation, Splenomegaly...	ORPHA:251066
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia, Hypochromic microcytic anemia, Osteope...	ORPHA:3240
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu...	OMIM:194380
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Extramedullary hematopoiesis, Rickets	ORPHA:79303
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Elevated hepati...	ORPHA:167
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Hydrocephalus, Tracheoesophageal fistula, Anotia, Micr...	ORPHA:268249
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Hyperphosphaturia, Corneal opacity, Recurrent fractures, Horseshoe kidney, Hypophosph...	OMIM:163200
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Neuromuscula...	ORPHA:206443
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Ana...	OMIM:619318
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Intestinal malrotation, Cleft palate, Abnormal heart morphology, Low-s...	ORPHA:404440
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Oligoarthritis, Hepatic amyl...	OMIM:142680
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Primary Sclerosing Cholangitis	Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of ...	ORPHA:171
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Retinal degeneration	ORPHA:442835
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, St...	OMIM:235555
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger...	ORPHA:261323
Acalvaria	Cleft palate, Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate	OMIM:600251
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, L...	OMIM:260920
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Pseudohypoparathyroidism Type 1A	Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short neck, Broad 1st m...	ORPHA:79443
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Spontaneous hemolytic crises, Cataract, Jaundice, Hepatosplenomegaly...	ORPHA:168577
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Ventricular septal defect, Recurrent fractures, Phthisis bulb...	OMIM:259770
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae, Joint hypermobility, Micro...	OMIM:617101
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal mesentery morphology, Abnormality of the gall...	ORPHA:2075
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Corne...	ORPHA:141099
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Urethral atresia, Tra...	OMIM:314390
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly	ORPHA:17
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Tibial bowing, Broad ribs, Myeloid leukem...	ORPHA:798
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Hypospadias, Posteriorly rotated ears, Pyloric stenosis, Penoscrotal transposition...	OMIM:619148
Microscopic Polyangiitis	Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Abnormal retin...	ORPHA:727
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Osteomyelitis, Gastritis, Autoimmune ...	ORPHA:37042
Sarcoidosis	Abnormal cerebrospinal fluid morphology, Increased T cell count, Nephrocalcinosis, Leukopenia, Tu...	ORPHA:797
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Corneal opacity, Recurrent fractures, Sclerocornea, ...	OMIM:609465
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
1Q21.1 Microdeletion Syndrome	Cataract, Hydrocephalus, Sensorineural hearing impairment, Joint hyperflexibility, Abnormal cardi...	ORPHA:250989
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Craniosynostosis	ORPHA:380
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, Macrotia	OMIM:600776
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Cardiomegaly, Increased CSF lactate, Hypertrophic cardiomyopathy, Ventri...	OMIM:619051
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Joubert Syndrome With Oculorenal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Retinal dystrophy, Agangli...	ORPHA:2318
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg...	OMIM:614292
Psoriasis 14, Pustular	Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Polyar...	OMIM:614204
Kenny-Caffey Syndrome, Type 2	Papilledema, Increased bone mineral density, Developmental cataract, Retinal calcification, Micro...	OMIM:127000
Aceruloplasminemia	Anemia, Retinal degeneration	OMIM:604290
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Ectodermal Dysplasia-Syndactyly Syndrome 2	Macrotia, Cardiomegaly	OMIM:613576
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Classic Homocystinuria	Gastrointestinal hemorrhage, Retinal detachment, Hepatomegaly, Abnormality of retinal pigmentatio...	ORPHA:394
Baraitser-Winter Syndrome 2	Microphthalmia, Abnormal pinna morphology, Ventriculomegaly, Hearing impairment	OMIM:614583
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Nephrocalcinosis, Aplasia/Hypo...	ORPHA:264450
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Craniosynostosis, Abnormality of the pancreas, Hydrocephalus, Aplasia/Hypoplasia of the earlobes,...	ORPHA:1555
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233710
Chops Syndrome	Cataract, Ventricular septal defect, Thickened helices, Tracheomalacia, Splenomegaly, High, narro...	OMIM:616368
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoacidu...	OMIM:617913
Mietens Syndrome	Cataract, Corneal opacity, Sclerocornea, Joint stiffness, Microcornea, Elbow ankylosis	ORPHA:2557
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy	OMIM:619183
Dubowitz Syndrome	Low-set, posteriorly rotated ears, Anal stenosis, Cataract, Hypospadias, Abnormality of neutrophi...	ORPHA:235
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Sensorineura...	ORPHA:293603
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Ventriculomegaly, Hypospadias, Posteriorly rotated ears, Cataract, ...	OMIM:257300
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Optic nerve hypoplasia, Micrognathia, 2-3 toe syndactyly, Co...	OMIM:620025
Vacterl With Hydrocephalus	Anophthalmia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Esophageal atresia, Hydr...	ORPHA:3412
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Horizontal ribs, Bell-shaped thorax, Normochromic anemia, Neutropenia, Thrombocytop...	OMIM:614857
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Esophageal atresia, Peters anomaly, Atrial septal defect, Microphthalmia	OMIM:614526
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcification, Abnormal ...	ORPHA:77261
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, ...	ORPHA:79240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Glycogen Storage Disease Ia	Lipemia retinalis, Osteoporosis, Pancreatitis, Gout	OMIM:232200
Neuropathy, Hereditary Sensory And Autonomic, Type V	Arthropathy, Low back pain, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fracture...	OMIM:608654
Treacher-Collins Syndrome	Encephalocele, Hypoplasia of penis, Cataract, Tracheoesophageal fistula, Cleft palate, Glossoptos...	ORPHA:861
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Corneal opacity, Keratitis, Microtia, Conjunctivitis	OMIM:602562
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Tapered finger, Hyperlordosis, Hip dislocation, Genu valgum, Hepatosplenomegaly, Hip dysplasia, T...	OMIM:301066
Band Heterotopia	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:600348
Rabin-Pappas Syndrome	Retinal detachment, Cataract, Optic nerve hypoplasia, Tracheomalacia, Retinal telangiectasia, Hyd...	OMIM:620155
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:233690
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Loeys-Dietz Syndrome 6	Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, High palate, Atrial septal defect, Wrist flexion contracture, Accessory...	OMIM:268300
Czeizel-Losonci Syndrome	Low-set, posteriorly rotated ears, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, T...	ORPHA:2437
Xeroderma Pigmentosum, Complementation Group B	Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, P...	OMIM:610651
Dowling-Degos Disease	Palmar pits, Arthritis, Acne inversa, Abnormality of the hand	ORPHA:79145
Severe Hemophilia A	Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join...	ORPHA:169802
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le...	ORPHA:83313
Curry-Jones Syndrome	Ventriculomegaly, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Unicorona...	OMIM:601707
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Splenome...	ORPHA:342
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Macular coloboma, Megaloblastic anemia, Hemolytic-uremic syndrome...	ORPHA:79282
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas...	OMIM:618394
Agel Amyloidosis	Tongue atrophy, Cataract, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, ...	ORPHA:85448
Tenorio Syndrome	Osteopenia, Joint laxity, Hydrocephalus, Enuresis, Macroglossia, Keratoconjunctivitis sicca, Gast...	OMIM:616260
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaph...	OMIM:618476
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Pulmonic stenosis, Right v...	OMIM:616028
8Q24.3 Microdeletion Syndrome	Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Rocker bottom f...	ORPHA:508488
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph...	ORPHA:206436
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v...	OMIM:309000
Hennekam Syndrome	Camptodactyly of finger, Craniosynostosis, Ectopic kidney, Pericardial effusion, Splenomegaly, Ma...	ORPHA:2136
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Optic atrophy, Ce...	ORPHA:87
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Hypobetalipoproteinemia, Familial, 1	Rod-cone dystrophy, Retinal degeneration, Acanthocytosis	OMIM:615558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Cataract, Peters anomaly, Hydrocephalus, Cleft palate, Buphthalmos, Macroglossia, ...	OMIM:613150
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defect, Situs inversus total...	ORPHA:1908
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Flexion contracture, Microcornea, Atrial septal defect, Contractur...	OMIM:300166
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro...	OMIM:106300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Pericarditis, Skin rash, Orchitis, Abnormal sacroiliac joint morphology, Per...	ORPHA:32960
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Temple Syndrome	Posteriorly rotated ears, Hydrocephalus, Flexion contracture, Cleft palate, High palate, Bifid uv...	OMIM:616222
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Osteolysis, Tricuspid valve prolapse, Aort...	ORPHA:2396
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Arthritis, Keratoconjunctivitis sicca	OMIM:617321
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Cataract, Splenomegaly, Jaundice, Nuclear cataract, Stomatocytosi...	OMIM:608885
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Short neck, Micromelia, Postaxial hand polydactyly, Polysplenia	OMIM:200995
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I...	OMIM:169550
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Sens...	OMIM:616975
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim...	OMIM:203500
D-Bifunctional Protein Deficiency	Osteopenia, Hepatomegaly, Elevated hepatic transaminase, Fetal ascites, Decreased nerve conductio...	OMIM:261515
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Gastroesophageal reflux, Holoprosencephaly, Atrial septal defe...	ORPHA:818
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Retinal arteriolar tortuosity, Hydrocephalus, Polycoria, Retin...	OMIM:175780
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Accessory s...	OMIM:194190
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227990
Aymé-Gripp Syndrome	Pericarditis, Cataract, Proteinuria, Posteriorly rotated ears, Craniosynostosis, Pericardial effu...	ORPHA:1272
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s...	ORPHA:100078
Noonan Syndrome 1	Pectus excavatum of inferior sternum, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic l...	OMIM:163950
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Hypoplasia of the semicircular canal, Gastroesophageal reflux,...	ORPHA:138
Lyme Disease	Arthritis, Infectious encephalitis, Joint swelling, Uveitis	ORPHA:91546
Lead Poisoning	Skin rash, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Tub...	ORPHA:330015
Pettigrew Syndrome	Ventriculomegaly, Aqueductal stenosis, Hydrocephalus, Sensorineural hearing impairment, Optic atr...	OMIM:304340
Multiple Myeloma	Osteopenia, Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, ...	ORPHA:29073
Stevenson-Carey Syndrome	Posteriorly rotated ears, Gastroesophageal reflux, Low-set ears, Camptodactyly, Atrial septal def...	OMIM:611961
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Cataract, Delayed epiphyseal ossification, Hydrocephalus, Sensorineural hearing impai...	OMIM:616007
Intellectual Developmental Disorder, X-Linked 30	Hydrocephalus, Macrotia, High palate	OMIM:300558
Crouzon Syndrome With Acanthosis Nigricans	Hydrocephalus, Craniosynostosis	OMIM:612247
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Hydrocephalus, Buphthalmos, Microphthalmia, Ventriculomegaly	OMIM:616538
Optic Pathway Glioma	Papilledema, Hydrocephalus, Optic atrophy	ORPHA:2086
Shwachman-Diamond Syndrome 2	Normocytic anemia, Anterior rib cupping, Thrombocytopenia, Metaphyseal widening, Neutropenia, Met...	OMIM:617941
Meckel Syndrome 14	Occipital encephalocele, Decreased calvarial ossification, Hepatic fibrosis, Holoprosencephaly, P...	OMIM:619879
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia, Tracheoesophageal fistula, Cleft palate	ORPHA:261272
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Renal insufficiency, Proteinuria, Thrombocytopenia, Stage 5 chronic kid...	OMIM:242900
Bartsocas-Papas Syndrome	Popliteal pterygium, Synostosis of joints, Corneal opacity, Cleft palate	ORPHA:1234
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic...	OMIM:619573
Norrie Disease	Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Aplasia/Hypoplas...	ORPHA:649
Tetrasomy 15Q26	Hydrocephalus, Cupped ear, Horseshoe kidney, High palate, Low-set ears, Camptodactyly, Atrial sep...	OMIM:614846
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Band keratopathy, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Keratoconjunctivitis...	OMIM:269200
Eosinophilic Granulomatosis With Polyangiitis	Increased inflammatory response, Myositis, Sinusitis, Skin rash, Eosinophilia, Myocarditis, Endoc...	ORPHA:183
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Chronic neutropenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to f...	ORPHA:79259
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Hydrocephalus, Dysplastic tricuspid valve, Submucous cleft hard palate, Cupp...	OMIM:612863
Behçet Disease	Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Cataract, Malabsorption, Splenome...	ORPHA:117
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Asplenia, Situs inversus totalis, Abnormal cornea morphology, Conduc...	OMIM:244400
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Abnormal antihelix morphology, Large earlobe, Low-set ears, Microphthalmia	ORPHA:1438
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial septal defect, Prot...	OMIM:619534
Marfan Syndrome	Retinal detachment, Arachnodactyly, Genu recurvatum, Protrusio acetabuli, Equinus calcaneus, Pect...	OMIM:154700
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Posteriorly rotated ears, Patchy osteosclerosis, Low-set ears, Microphthalmia, Micropenis, Bifid ...	OMIM:241410
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia...	OMIM:234050
Hec Syndrome	Communicating hydrocephalus, Abnormal retinal vascular morphology, Abnormal pupil morphology, Dev...	ORPHA:2119
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Horseshoe kidney, Joint hyperflexibility, High palate, Gastroesophageal re...	ORPHA:65286
Heart And Brain Malformation Syndrome	Attached earlobe, Ventricular septal defect, Posteriorly rotated ears, Camptodactyly of finger, H...	OMIM:616920
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Bicuspid aortic valve, Ventricular septal defect, Increased mean p...	ORPHA:84064
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity	Aortic valve stenosis, Bicuspid aortic valve, Hydrocephalus	OMIM:615599
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal st...	ORPHA:1572
Charcot-Marie-Tooth Disease Type 1F	Absent brainstem auditory responses, Tongue atrophy, Urinary incontinence, Optic nerve hypoplasia...	ORPHA:101085
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Posterior...	OMIM:130720
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Hydrocephalus, Renal hypoplasia, Tracheoesophageal...	OMIM:614083
Simpson-Golabi-Behmel Syndrome	Vertebral fusion, Finger syndactyly, Toe syndactyly, Short 2nd finger, Camptodactyly of finger, C...	ORPHA:373
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Generaliz...	ORPHA:50918
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy	ORPHA:370022
Oligoarticular Juvenile Idiopathic Arthritis	Knee osteoarthritis, Oligoarthritis, Uveitis, Abnormality of the ankle, Rheumatoid arthritis, Joi...	ORPHA:85410
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Ventricular septal defect, Abnormally large globe, Hydrocephalus, Knee flexion contracture, Atria...	OMIM:603387
Aceruloplasminemia	Refractory anemia, Abnormality of retinal pigmentation, Hypochromic microcytic anemia, Macular de...	ORPHA:48818
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Cupped ear, Ocular albinism, Anteriorly placed anus, Abnormal cardiac septum morphology, Microtia...	ORPHA:1352
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Sacral dimple, Shor...	OMIM:180700
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Sensorineural hearing impairment, Amyloid deposition in the v...	OMIM:105210
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, High palate, Neutropenia, He...	OMIM:612541
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atres...	ORPHA:59315
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Ventriculomegaly	OMIM:230650
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Cleft palate, Renal cyst, Bile duct proliferation, Micropht...	OMIM:611561
Microphthalmia, Syndromic 9	Anophthalmia, Truncus arteriosus, Ventricular septal defect, Bilateral microphthalmos, Hypoplasti...	OMIM:601186
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked...	ORPHA:99027
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, Endocarditis, Septic art...	ORPHA:449280
Frontorhiny	Encephalocele, Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Cleft palate...	ORPHA:391474
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He...	ORPHA:227982
Peters Plus Syndrome	Ureteral duplication, Bicuspid pulmonary valve, Microcornea, Conductive hearing impairment, Spina...	ORPHA:709
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Retinal dystrophy, Hydrocep...	OMIM:608091
Generalized Pustular Psoriasis	Pustule, Leukocytosis, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, Erythroderma, Lymp...	ORPHA:247353
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Hydrocephalus, Submucous cleft hard palate, Anen...	ORPHA:2189
Gorlin Syndrome	Vertebral fusion, Hydrocephalus, Cataract, Iris coloboma	ORPHA:377
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Hydrocephalus, High palate, Overfolded helix, Hydronephrosis, Ventricu...	OMIM:609757
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Cataract, Malabsorption, Flexion contracture, Protruding ear, Microcornea...	OMIM:601675
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Uveitis, Ulcerative...	ORPHA:810
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Scoliosis, Mesomelia, Clinodactyly...	OMIM:616894
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Keratoconjunctivitis ...	OMIM:617388
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Micrognathia	OMIM:601076
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Eczema, Pustule, Abnormal rib morphology, Palmoplanta...	ORPHA:2907
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Classical Ehlers-Danlos Syndrome	Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo...	ORPHA:287
Monosomy 18P	Cleft palate, Protruding ear, Abnormal antihelix morphology, Holoprosencephaly, Microphthalmia, M...	ORPHA:1598
Fanconi Anemia, Complementation Group C	Pancytopenia, Ventricular septal defect, Ectopic kidney, Flexion contracture, Reticulocytopenia, ...	OMIM:227645
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Myoclonic-Astatic Epilepsy	EEG with polyspike wave complexes, EEG with focal spike waves, EEG with irregular generalized spi...	ORPHA:1942
Short Stature, Microcephaly, And Endocrine Dysfunction	Limb undergrowth, Clinodactyly, Lymphopenia, Anemia	OMIM:616541
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Sacral dimple, Camptodactyly of finger, Micromelia, Coxa valga, Pectus excavat...	ORPHA:3107
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lateral ventricular asymmetry, Hyperextensibility of the finger joints, Craniosynostosis, Ectopia...	OMIM:616914
Leukocyte Adhesion Deficiency Type Ii	Neutrophilia, Severe periodontitis, Overlapping toe, Microcytic anemia, Keratitis, Leukocytosis, ...	ORPHA:99843
Cerebrooculonasal Syndrome	Encephalocele, Ventriculomegaly, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, ...	OMIM:605627
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Alagille Syndrome 1	Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A...	OMIM:118450
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Conductive hearing impairment, Hydrocephalus, Optic atrophy	ORPHA:93262
Hydrocephalus, Congenital, 3, With Brain Anomalies	Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation	OMIM:617967
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Pancreatic Triacylglycerol Lipase Deficiency	Osteomalacia, Osteoporosis, Rickets, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis	ORPHA:309031
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Charge Syndrome	Anophthalmia, Secundum atrial septal defect, Holoprosencephaly, Atrial septal defect, Micropenis,...	OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Optic disc pallor, Camptodactyly of finger, Delayed closure of the anterior fon...	OMIM:607872
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Kyphoscoliosis, Short neck, A...	ORPHA:2044
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Jaundice, Cirrhosis, L...	ORPHA:57777
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Protruding tongue, Cardiomegaly, Abnormal atrioventricular valve morphology, Overfolded helix, Mi...	ORPHA:324410
Peho Syndrome	External ear malformation, Hydrocephalus, Flexion contracture, Optic atrophy, Limitation of joint...	ORPHA:2836
Intellectual Developmental Disorder, Autosomal Recessive 68	Hydrocephalus, Protruding ear	OMIM:618302
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Rothmund-Thomson Syndrome, Type 2	Cataract, Underfolded helix, Osteoporosis, Overfolded helix, Anteriorly placed anus, Prominent an...	OMIM:268400
Alexander Disease Type I	Hydrocephalus, Dysphagia	ORPHA:363717
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Aase-Smith Syndrome I	Abnormal pinna morphology, Ventricular septal defect, Hydrocephalus, Flexion contracture, Cleft p...	OMIM:147800
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Tetraamelia Syndrome 1	Cataract, Asplenia, Hydrocephalus, Cleft palate, Urethral atresia, Low-set ears, Microphthalmia, ...	OMIM:273395
Rheumatic Fever	Pericarditis, Sinusitis, Myocarditis, Endocarditis, Arthritis	ORPHA:3099
Multiple Benign Circumferential Skin Creases On Limbs	Low-set, posteriorly rotated ears, Hypospadias, External ear malformation, Cleft palate, Microcor...	ORPHA:2505
7Q11.23 Microduplication Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Craniosynostosis, Unil...	ORPHA:96121
Listeriosis	Back pain, Stiff neck, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis,...	ORPHA:533
Melioidosis	Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl...	ORPHA:31202
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Hydrocephalus, Protruding ear, Gastroesophageal reflux, High palate, Joint hypermobility	OMIM:612940
Kagami-Ogata Syndrome	Kyphoscoliosis, Coxa valga, Short neck, Micrognathia, Limitation of joint mobility, Bell-shaped t...	ORPHA:254519
Polycythemia Vera	Myelofibrosis, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Portal vein thromb...	ORPHA:729
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Retinal...	ORPHA:42775
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire...	OMIM:306400
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Retinal hamartoma, Hydrocephalus, Abnormalit...	ORPHA:538
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Joubert Syndrome	Encephalocele, Aganglionic megacolon, Situs inversus totalis, Hydrocephalus, Low-set ears, Iris c...	ORPHA:475
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Posteriorly rotated ears, Hydrocephalus, Optic atrophy, High palate, Low-set ears, Jo...	OMIM:618590
Cole-Carpenter Syndrome 1	Osteopenia, Communicating hydrocephalus, Recurrent fractures, Hydrocephalus, Reduced bone mineral...	OMIM:112240
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts	Communicating hydrocephalus, Developmental cataract, Endocardial fibroelastosis	OMIM:600559
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Choroidal neovascularization, ...	ORPHA:51608
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea, Protruding ear	OMIM:268320
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Cardiomegaly, Pericardial effusion, EEG with burst suppression, Hydrocephalus, Increase...	OMIM:261740
Myhre Syndrome	Vertebral fusion, Overlapping toe, Joint stiffness, Hypoplastic iliac wing, Short neck, Short toe...	OMIM:139210
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Posteriorly rotated ears, Optic nerve hypoplasia, Joint hypermobility, High, narrow palate, Bilat...	OMIM:607597
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Mixed hearing impairment, Multiple joint contractures, Posteriorly rotated ears, Recu...	ORPHA:536467
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Ventriculomegaly, Retinal atrophy, Cataract, Hydrocephalus, Optic atrophy, Buphthalmos, EEG abnor...	OMIM:253280
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Cleft palate, Microtia, High palate, Holoprosencephaly, Low-set ears, ...	OMIM:612530
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Macroglossia, Hearing impairment	OMIM:232300
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Pectus excavatum, Rickets, Reduced bone mineral density, ...	OMIM:613658
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe ki...	OMIM:612284
Spondyloocular Syndrome	Osteopenia, Retinal detachment, Cataract, Duodenal ulcer, Posteriorly rotated ears, Sensorineural...	OMIM:605822
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:93941
Developmental And Epileptic Encephalopathy 95	Joint laxity, Hepatomegaly, Multiple joint contractures, Posteriorly rotated ears, Cardiomegaly, ...	OMIM:618143
Central Precocious Puberty In Male	Hydrocephalus	ORPHA:649929
Joubert Syndrome With Renal Defect	Encephalocele, Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Hyd...	ORPHA:220497
Gomez-Lopez-Hernandez Syndrome	Posteriorly rotated ears, Craniosynostosis, High palate, Low-set ears, Opacification of the corne...	OMIM:601853
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the ant...	OMIM:601552
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi...	ORPHA:139402
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Abnormal t...	ORPHA:740
Thymic Neuroendocrine Tumor	Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pancreatic islet cell...	ORPHA:97289
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice...	OMIM:615512
Fanconi Anemia, Complementation Group E	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Abnormal heart morphology, Ane...	OMIM:600901
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele	ORPHA:261102
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Ventricular septal defect, Hypospadias, Increased mean platelet vo...	OMIM:222470
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Hydrocephalus, Ileus, Colpocephaly, Congenital contracture, High palate, Low...	OMIM:620156
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Gastroesophageal reflux, Conductive hearing impairment, Severe sensorineural hearing impairment, ...	OMIM:620186
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Recurrent fractures, Joint stiffn...	ORPHA:636
Opitz-Kaveggia Syndrome	Anal stenosis, Multiple joint contractures, Hypospadias, Intestinal malrotation, Pyloric stenosis...	OMIM:305450
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Hydrocephalus, Sensorineural hearing impairment, Cl...	OMIM:612938
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Ankle clonus, Macular degeneration	ORPHA:284289
Middle Ear Neuroendocrine Tumor	Facial palsy, Chronic noninfectious lymphadenopathy, Sensorineural hearing impairment, Tinnitus, ...	ORPHA:100084
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Abnormal mast cell morphology, Cleft palate	ORPHA:398189
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Monosomy 18Q	Absence of the pulmonary valve, Abnormal retinal morphology, Secundum atrial septal defect, Hydro...	ORPHA:1600
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	High, narrow palate, Hydrocephalus, Joint hyperflexibility	ORPHA:2181
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Lymphadenopathy	ORPHA:2221
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Multiple joint contractures, Neonatal alloimmune thrombocytopenia,...	ORPHA:51
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Cartilage destruction, Enthesitis, Arthrit...	ORPHA:29207
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Hydrocephalus, Aplasia/Hypoplasia o...	ORPHA:2306
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Fanconi Anemia, Complementation Group A	Pancytopenia, Ectopic kidney, Reticulocytopenia, Horseshoe kidney, Abnormal heart morphology, Ane...	OMIM:227650
Acute Panmyelosis With Myelofibrosis	Myelofibrosis, Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
3Mc Syndrome 3	Abnormal pinna morphology, Corneal opacity, Cleft palate, Horseshoe kidney, Radioulnar synostosis...	OMIM:248340
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Hydrocephalus, Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcificati...	ORPHA:157
Monosomy 9P	Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Micrognathia, Postaxial...	ORPHA:261112
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Abnormal pinna morphology, Conductive hearing impairment, Cleft pal...	OMIM:164200
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Abnormal stern...	OMIM:177850
Loeys-Dietz Syndrome 3	Joint laxity, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of...	OMIM:613795
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Wagro Syndrome	Cataract, Proteinuria, Corneal opacity, Low-set ears, Aniridia	OMIM:612469
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental ...	OMIM:606519
Lymphangiectasia, Intestinal	Lymphopenia, Prominent floating ribs	OMIM:152800
Late Infantile Neuronal Ceroid Lipofuscinosis	Retinal degeneration	ORPHA:168491
Cardiofaciocutaneous Syndrome	Abnormality of the gastrointestinal tract, Low-set, posteriorly rotated ears, Abnormal heart valv...	ORPHA:1340
Immunodeficiency 27B	Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis	OMIM:615978
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersple...	ORPHA:77293
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstiti...	ORPHA:289390
Hogue-Janssen Syndrome 2	Ventriculomegaly, Joint hypermobility, Hydrocephalus, Unilateral renal agenesis	OMIM:616362
Beare-Stevenson Cutis Gyrata Syndrome	Hypospadias, Posteriorly rotated ears, Craniosynostosis, Hydrocephalus, Optic atrophy, Narrow pal...	OMIM:123790
15Q Overgrowth Syndrome	Low-set, posteriorly rotated ears, Contracture of the proximal interphalangeal joint of the 3rd f...	ORPHA:314585
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, High palate, Cleft palate	ORPHA:1135
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,...	OMIM:307200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Short phalanx of finger, Broad finger, Small hand	OMIM:300845
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Ventriculomegaly, Corneal opacity, Craniosynostosis, Smooth tongue, Anemia	ORPHA:79396
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Red-brown urine, Red urine,...	ORPHA:95159
Reynolds Syndrome	Skin rash, Arthritis, Keratoconjunctivitis sicca, Infectious encephalitis	ORPHA:779
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Perianal abscess, Arthritis, Inflammation of the large intestine, C...	OMIM:301074
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Flexion contracture of finger, Parotitis, Camptodact...	OMIM:256040
Papillary Tumor Of The Pineal Region	Hydrocephalus, Increased CSF protein concentration	ORPHA:251915
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Joint contracture, Optic atrophy	OMIM:616881
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Arthritis	ORPHA:397744
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Optic disc hypoplasia, Hypoplastic vertebral bodies, Long toe, 2-3 toe syndactyly, Wi...	ORPHA:3455
Fanconi Anemia, Complementation Group S	Microphthalmia, Narrow palate, Anemia	OMIM:617883
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Corneal opacity, Unilateral renal agenesis, Dilatation of the ventricul...	ORPHA:90348
Mucolipidosis Iii Gamma	Aortic valve stenosis, Opacification of the corneal stroma, Joint stiffness	OMIM:252605
Lacrimoauriculodentodigital Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Systemic Lupus Erythematosus	Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia, Retinopa...	ORPHA:536
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Progressive hearing i...	ORPHA:514
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Coronal craniosynostosis, Low-set ears	ORPHA:228390
Fraser Syndrome 2	Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplasia, Ureteral age...	OMIM:617666
Icf Syndrome	Communicating hydrocephalus, Abnormality of neutrophils, Protruding tongue, Malabsorption, Macrog...	ORPHA:2268
Adiposis Dolorosa	Arthritis, Recurrent skin infections	ORPHA:36397
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Aplasia/Hypoplasia of the optic nerve, Hb...	ORPHA:423479
Polymyositis	Arthritis, Pericarditis, Chondrocalcinosis	ORPHA:732
Zttk Syndrome	Craniosynostosis, Kyphosis, Flexion contracture, Rib fusion, Small hand, Optic atrophy, Hemiverte...	OMIM:617140
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Cleft palate, Microtia, Multiple bladder diverticula, Atrial septal defect, Micropht...	ORPHA:2728
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Houge-Janssens Syndrome 1	Pyloric stenosis, Hydrocephalus, Ventriculomegaly	OMIM:616355
Temple Syndrome	Hydrocephalus, Bifid uvula	ORPHA:254516
Beemer-Ertbruggen Syndrome	Communicating hydrocephalus, Increased bone mineral density, Low-set, posteriorly rotated ears, T...	ORPHA:1237
Giant Cell Arteritis	Arthritis, Pericarditis, Optic atrophy, Joint stiffness	ORPHA:397
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti...	ORPHA:331235
Combined Oxidative Phosphorylation Deficiency 41	Hearing impairment, Anemia, Cardiomegaly	OMIM:618838
Medullary Thyroid Carcinoma	Dysphagia, Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Pfeiffer Syndrome Type 2	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Limitation of joint mobility, Cleft p...	ORPHA:93259
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Hypospadias, Intestinal ma...	ORPHA:2166
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Cataract, Sclerocornea, Vesicoureteral reflux, Doubl...	OMIM:619869
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Retinal vascular proliferati...	OMIM:308300
Desmosterolosis	Posteriorly rotated ears, Generalized osteosclerosis, Hydrocephalus, Cupped ear, Cleft palate, To...	OMIM:602398
Mucoepithelial Dysplasia, Hereditary	Cataract, Eosinophilia, Cor pulmonale, Furrowed tongue, Hematuria, Melena, Keratoconjunctivitis, ...	OMIM:158310
Neurooculorenal Syndrome	Iris atrophy, Mixed hearing impairment, Dextrocardia, Unilateral renal agenesis, Intestinal malro...	OMIM:620305
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Dysphagia, Lymphadenopathy	ORPHA:142
Marden-Walker Syndrome	Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney dysplasia, Hypospadias, Ab...	ORPHA:2461
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Optic disc coloboma, Cleft palate, Low-set ea...	ORPHA:251014
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri...	ORPHA:447788
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Leukocytosi...	OMIM:619321
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Melkersson-Rosenthal Syndrome	Facial palsy, Furrowed tongue, Oligosacchariduria, Macroglossia, Lymphadenopathy, Abnormal autono...	ORPHA:2483
Camurati-Engelmann Disease	Hepatomegaly, Facial palsy, Splenomegaly, Craniofacial osteosclerosis, Optic atrophy, Limitation ...	ORPHA:1328
Autosomal Dominant Dopa-Responsive Dystonia	Paresis of extensor muscles of the big toe, Progressive flexion contractures, Talipes equinovarus...	ORPHA:98808
Distal Renal Tubular Acidosis	Hemolytic anemia, Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mine...	ORPHA:18
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydrocephalus, Cleft palate, Joint contracture, Hydranencephaly, Pterygium, Dandy-Walker malforma...	OMIM:225790
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Corneal opacity, Cleft palate, Microphthalmia, Microglossia, Hearing impairment	ORPHA:364577
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Gastroesophageal reflux, Hepatic steatosis, Hepatomegaly, Membranoproliferativ...	OMIM:619525
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Esophageal stricture, Uret...	OMIM:305000
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation, Bilateral microphthalmos	ORPHA:77299
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Renal cyst, Anteriorly p...	ORPHA:495875
Koolen-De Vries Syndrome Due To A Point Mutation	Bicuspid aortic valve, Protruding ear, Interictal epileptiform activity, Vesicoureteral reflux, A...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Bicuspid aortic valve, Protruding ear, Interictal epileptiform activity, Vesicoureteral reflux, A...	ORPHA:363958
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Pontocerebellar Hypoplasia, Type 7	Hydrocephalus, Optic atrophy, High palate, Low-set ears, Micropenis, Macrotia, Ventriculomegaly	OMIM:614969
Kabuki Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Hydrocephalus, Sensorineural heari...	ORPHA:2322
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, High, narrow palate, Hydrocephalus, Sensorineural hearing impairment, ...	OMIM:619575
Marshall-Smith Syndrome	Decreased hip abduction, Ventricular septal defect, Large sternal ossification centers, Craniosyn...	OMIM:602535
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Generalized lymphadenopathy, Atrophic gastritis, Pe...	OMIM:615846
Mednik Syndrome	Cataract, Jejunal atresia, Sensorineural hearing impairment, Cholestasis, Hepatic fibrosis, Cirrh...	OMIM:609313
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin...	OMIM:145350
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Seckel Syndrome 2	Microphthalmia, Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Hydrolethalus Syndrome 2	Cleft palate, Hydrocephalus, Anencephaly, Ventriculomegaly	OMIM:614120
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hepatoblastoma, Posterior...	ORPHA:116
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge...	ORPHA:83471
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati...	ORPHA:285
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100080
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Velopharyngeal insufficiency, Submucous cleft hard palate, Protrudi...	OMIM:223370
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Skin Creases, Congenital Symmetric Circumferential, 1	Posteriorly rotated ears, Cleft palate, Microcornea, High palate, Low-set ears, Microphthalmia, O...	OMIM:156610
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Joint stiffness, Cleft palate, Atrial septal defect, Microphth...	ORPHA:1915
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hypocalciuric Hypercalcemia, Familial, Type Iii	Pancreatitis, Osteomalacia, Chondrocalcinosis	OMIM:600740
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Small int...	ORPHA:100093
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia	OMIM:601162
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Ventricular septal defect, Posteriorly rotated ears, Corneal op...	OMIM:608670
Senior-Loken Syndrome 8	Rod-cone dystrophy, Retinal dystrophy, Polydactyly, Macular atrophy	OMIM:616307
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Sensorineural hearing impairment, Ileus, Arthr...	ORPHA:163746
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus	OMIM:616521
Gray Platelet Syndrome	Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephritis, Gout	OMIM:162000
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia	OMIM:618727
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:308552
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Hematuria, Neutropenia, Thromboc...	ORPHA:520
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Glutaric aciduria, Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, EEG abnormality, Increased CSF protein concentrat...	ORPHA:206448
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta	OMIM:182940
Central Neurocytoma	Abnormal lateral ventricle morphology, Tinnitus, Hydrocephalus	ORPHA:73256
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect, Hypospadi...	ORPHA:163979
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Gast...	OMIM:620233
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint hyperflexibility, Hydrocephalus, Optic atrophy, Ventriculomegaly	ORPHA:60040
Okamoto Syndrome	Urinary incontinence, Abnormally large globe, Primum atrial septal defect, Gastroesophageal reflu...	ORPHA:2729
Hemophilia B	Osteoarthritis, Joint hemorrhage	OMIM:306900
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Cortical th...	ORPHA:93325
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Limitation of joint mobi...	ORPHA:728
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, Optic disc pallor, Multiple joint contractures, Hypospadias, O...	ORPHA:468631
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100075
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Hemophilia A	Osteoarthritis, Joint hemorrhage	OMIM:306700
Digeorge Syndrome	Sclerocornea, High, narrow palate, Abnormal thymus morphology, Hypoplasia of the thymus, High pal...	OMIM:188400
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Conjunctival hyperemia, Cupped ear, Low-set ears	OMIM:167730
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger	ORPHA:544488
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Simple Cryoglobulinemia	Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Chronic lymphatic leukem...	ORPHA:91139
Leptospirosis	Hepatomegaly, Pericarditis, Papilledema, Cellular urinary casts, Jaundice, Retinal hemorrhage, He...	ORPHA:509
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Frontonasal Dysplasia 3	Low-set ears, Microphthalmia, Posteriorly rotated ears, Cleft palate	OMIM:613456
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Cleft palate...	OMIM:311200
Myelofibrosis	Myelofibrosis, Splenomegaly, Myeloproliferative disorder	OMIM:254450
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hyperglycorrhachia, Hydrocephalus, Increased CSF lactate, Left ventricular hypertrophy	ORPHA:90065
Moebius Syndrome	Corneal opacity, Facial palsy, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Dysph...	ORPHA:570
Gorlin-Chaudhry-Moss Syndrome	Conductive hearing impairment, Coronal craniosynostosis, Astigmatism, Sclerocornea	ORPHA:2095
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's...	OMIM:249100
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100082
Functioning Gonadotropic Adenoma	Osteopenia, Enlarged polycystic ovaries, Hydrocephalus, Osteoporosis, Ascites	ORPHA:91348
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Macrotia, Trach...	ORPHA:1780
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Increased bone mineral density, Hypospadias, Facial palsy, Epispadias,...	ORPHA:2658
Crimean-Congo Hemorrhagic Fever	Stiff neck, Leukopenia, Conjunctivitis, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial ef...	ORPHA:99827
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Short foot, Fused cervical vertebrae, Fusion of midd...	OMIM:157800
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, High, narrow palate, Protruding ear, High palate, Chorioretinal coloboma, ...	OMIM:619475
Lymphoid Interstitial Pneumonia	Skin rash, Eczema, Clubbing, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis	ORPHA:79128
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Mend Syndrome	Crossed fused renal ectopia, Cataract, Posteriorly rotated ears, Hydrocephalus, Overfolded helix,...	OMIM:300960
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Preaxial polydactyly, Abnormal ...	OMIM:192350
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Microphthalmia, Macrotia	OMIM:302350
Familial Tumoral Calcinosis	Splenomegaly, Hyperostosis, Nephrocalcinosis, Hepatomegaly	ORPHA:53715
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea, Dilated cardiomyopathy, Lateral ventricle dilatation, Histiocytoid cardiomyopathy, ...	OMIM:300952
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn...	ORPHA:363417
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft hard palate, Abnor...	ORPHA:261552
Branchiooculofacial Syndrome	Anophthalmia, Renal cyst, Gastroesophageal reflux, Conductive hearing impairment, Ectopic thymus ...	OMIM:113620
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal pinna morphology, Hydrocephalus, Flexion contracture, Humeroradial synostosis, Lambdoida...	OMIM:207410
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Holoprosencephaly 14	Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydro...	OMIM:619895
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Hypospadias, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Microphthalmia	OMIM:615877
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft hard palate, Flexi...	ORPHA:261537
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Osteopor...	ORPHA:365
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Limited elbow movement, Cardiomegaly, Limited knee flexion/extension, Pollakisuria, Brachial plex...	ORPHA:268
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Anteverted ears, High palate, Holoprosencephaly, Chorioretinal colobom...	OMIM:613884
Zimmermann-Laband Syndrome 1	Hepatomegaly, Hyperextensibility of the finger joints, Cataract, Posteriorly rotated ears, Spleno...	OMIM:135500
Nephronophthisis 11	Anemia, Retinal degeneration	OMIM:613550
Behcet Syndrome	Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Chorioretinitis, Iritis	OMIM:109650
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Cataract, Remnants of the hyalo...	OMIM:619539
Mowat-Wilson Syndrome	Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Cleft hard palate, Gastr...	ORPHA:2152
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ...	OMIM:601358
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a...	OMIM:618195
Congenital Myopathy 22A, Classic	Hip contracture, Achilles tendon contracture, Osteoporosis, Normal pressure hydrocephalus, High p...	OMIM:620351
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Schisis Association	Micromelia	ORPHA:63862
Lysinuric Protein Intolerance	Hepatomegaly, Recurrent fractures, Splenomegaly, Osteoporosis, Stage 5 chronic kidney disease, An...	OMIM:222700
Radial Aplasia, X-Linked	Hydrocephalus, Penile hypospadias, Anal atresia	OMIM:312190
Acromegaly	Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelli...	ORPHA:963
Insensitivity To Pain, Congenital, With Anhidrosis	Osteomyelitis, Keratitis, Corneal scarring, Corneal ulceration, Abnormal autonomic nervous system...	OMIM:256800
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Vesicoureter...	ORPHA:857
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Large earlobe, Low-set ears, Persistent pupillary membrane, Microphthalmia	OMIM:257850
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Flexion contracture, Gastroesophageal reflux, Micropenis, Dilated third ventricle,...	ORPHA:500055
Peters-Plus Syndrome	Ureteral duplication, Bilobate gallbladder, Limited elbow movement, Protruding ear, Anteriorly pl...	OMIM:261540
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Short neck, Microgn...	OMIM:256520
Joubert Syndrome 6	Retinal degeneration, Chorioretinal coloboma	OMIM:610688
Renpenning Syndrome 1	Cataract, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Macrotia, Cup...	OMIM:309500
Kabuki Syndrome 1	Protruding ear, High palate, Atrial septal defect, Micropenis, Hemolytic anemia, Autoimmune throm...	OMIM:147920
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Thyroid Lymphoma	Dysphagia, Lymphadenopathy	ORPHA:97285
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Sacral segmentation defect, ...	OMIM:258040
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Cleft palate, Protruding ear, Joint contracture of the 5th finger, Low-set ears, Mi...	OMIM:620098
C Syndrome	Joint dislocation, Sacral dimple, Toe syndactyly, Bilateral single transverse palmar creases, Mic...	ORPHA:1308
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Sensorineural hearing impairment, Keratoconjunctivitis sicca, Conjunctivitis...	OMIM:278730
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Complement Factor I Deficiency	Recurrent skin infections, Glomerulonephritis, Pyelonephritis, Recurrent sinusitis, Recurrent oti...	OMIM:610984
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Cataract, Hydrocephalus, Bone cyst, Fl...	ORPHA:3042
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Small earlobe, High, narrow palate, Horseshoe kidne...	OMIM:272950
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Plasminogen Deficiency, Type I	Ventriculomegaly, Duodenal ulcer, Hydrocephalus, Nephrolithiasis, Conjunctivitis, Nephritis, Dand...	OMIM:217090
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture...	OMIM:620232
Alexander Disease	Osteopenia, Facial palsy, Aqueductal stenosis, Hydrocephalus, EEG abnormality, High palate, Abnor...	ORPHA:58
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatitis, Ele...	OMIM:269700
Craniosynostosis And Dental Anomalies	Hallux valgus, Papilledema, Prominent metopic ridge, Broad hallux, Sagittal craniosynostosis, 2-3...	OMIM:614188
Costello Syndrome	Hyperextensibility of the finger joints, Renal insufficiency, Ventricular septal defect, Posterio...	OMIM:218040
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Dysphagia	OMIM:207950
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis, Gout	ORPHA:411543
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Optic nerve hypoplasia, Sensorineural hearing impairment, Lateral ventricle dilatat...	ORPHA:300570
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis,...	ORPHA:2331
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Rickets	ORPHA:411629
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Joint swelling, La...	ORPHA:314769
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo...	ORPHA:67043
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Abnormality of infra-orbital nerve, Retroperitoneal fibrosis, Abnormal...	ORPHA:449563
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Papilledema, Hydrocephalus	OMIM:260500
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati...	OMIM:602200
Pfeiffer Syndrome	Hydrocephalus, Humeroradial synostosis, High palate, Coronal craniosynostosis, Elbow ankylosis	OMIM:101600
Developmental And Epileptic Encephalopathy 49	Hydrocephalus, Macrotia, Optic atrophy, EEG abnormality, Dandy-Walker malformation, Ventriculomegaly	OMIM:617281
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Joint stiffness	ORPHA:2182
Orofaciodigital Syndrome Type 4	Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial...	ORPHA:2753
Mowat-Wilson Syndrome	Cataract, Ventricular septal defect, Hypospadias, Aganglionic megacolon, Uplifted earlobe, Pylori...	OMIM:235730
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis	OMIM:615947
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Pyoderma Gangrenosum	Myositis, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myeloid leukemia	ORPHA:48104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg...	OMIM:615287
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Dural Sinus Malformation	Papilledema, Pulsatile tinnitus, Myelopathy, Hydrocephalus, Chemosis	ORPHA:97339
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato...	OMIM:300855
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip and palate, Alobar holoprosencephaly, Hydrocephalus, Bil...	OMIM:610828
Momo Syndrome	Underfolded helix, Bilateral microphthalmos, High palate, Chorioretinal coloboma, Abnormal bone o...	ORPHA:2563
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Cleft palate, Corneal ulceration, Conjunctivitis, Recurrent corneal er...	OMIM:153400
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Neuropathic arthropathy, Abscess, Painless fractures due to injury, Abn...	ORPHA:642
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Osteoarthritis, Spinal canal stenosis, Abnorma...	ORPHA:1320
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Rheumatoid arthritis, Hashimoto thy...	ORPHA:589
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect...	ORPHA:100079
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Inflamma...	OMIM:617718
Hemangioblastoma	Retinal capillary hemangioma, Neurogenic bladder, Hydrocephalus	ORPHA:252054
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Retinal dystrophy, Posteriorly rotated ears, Aqueductal stenosis, Hydrocephalus, Sensorineural he...	OMIM:619512
Immunoglobulin A Vasculitis	Episcleritis, Skin rash, Pustule, Orchitis, Optic atrophy, Arthritis, Infectious encephalitis	ORPHA:761
Igg4-Related Kidney Disease	Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph...	ORPHA:449395
Ohdo Syndrome, X-Linked	Posteriorly rotated ears, Hiatus hernia, Microtia, High palate, Low-set ears, Microphthalmia, Mic...	OMIM:300895
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Gout	OMIM:618061
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia	OMIM:617914
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Micrognathia, Optic atrophy, Mesomelia, Hip subluxation	OMIM:613457
Deafness, X-Linked 7	Atresia of the external auditory canal, Posteriorly rotated ears, Unilateral microphthalmos, Hear...	OMIM:301018
Arachnoiditis	Hydrocephalus, Urinary bladder sphincter dysfunction, Tinnitus, Hearing impairment	ORPHA:137817
Monosomy 13Q14	Abnormality of the gastrointestinal tract, Cataract, Thickened helices, Protruding ear, Holoprose...	ORPHA:1587
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Arachnoid Cyst	Encephalocele, Enlarged fossa interpeduncularis, Urinary incontinence, Facial palsy, Hydrocephalu...	ORPHA:2356
Microphthalmia, Syndromic 6	Anophthalmia, Retinal dystrophy, Posteriorly rotated ears, Uplifted earlobe, Sclerocornea, Renal ...	OMIM:607932
Melanosis, Neurocutaneous	Choroid plexus papilloma, Hydrocephalus, Dandy-Walker malformation	OMIM:249400
Marburg Hemorrhagic Fever	Back pain, Reticulocytosis, Pericarditis, Lymphopenia, Skin rash, Maculopapular exanthema, Orchit...	ORPHA:99826
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis, Renal hypoplasia, Spinal dysraphism	OMIM:612918
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Bilateral cleft lip and palate, Mitral valve prolapse, Hi...	OMIM:618874
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Cornelia De Lange Syndrome	Toe syndactyly, Abnormal morphology of ulna, Micromelia, Joint stiffness, Pectus excavatum, Proxi...	ORPHA:199
Amelocerebrohypohidrotic Syndrome	EEG abnormality, Hydrocephalus	ORPHA:1946
Townes-Brocks Syndrome 1	Gastroesophageal reflux, Holoprosencephaly, Chorioretinal coloboma, Vesicoureteral reflux, Atrial...	OMIM:107480
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Autosomal Recessive Spastic Paraplegia Type 11	Scoliosis, Retinal degeneration	ORPHA:2822
Plague	Hepatomegaly, Mydriasis, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditis, E...	ORPHA:707
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatitis, Spl...	OMIM:608594
Intellectual Developmental Disorder, Autosomal Dominant 65	Macrotia, Posteriorly rotated ears, Noncommunicating hydrocephalus, Low-set ears	OMIM:619320
Pyruvate Dehydrogenase E2 Deficiency	Retinal degeneration	ORPHA:79244
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:97287
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Cleft palate, Conotruncal defect, Anotia, Microtia	OMIM:243440
Gaisböck Syndrome	Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Nephrocalc...	ORPHA:90041
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate	OMIM:614402
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
47,Xyy Syndrome	Hypospadias, Hydrocephalus, Low-set ears, Congenital stationary night blindness, Micropenis	ORPHA:8
African Trypanosomiasis	Hepatomegaly, Pericarditis, Papilledema, Renal insufficiency, Urinary incontinence, Keratitis, My...	ORPHA:3385
Juvenile Dermatomyositis	Myositis, Pericarditis, Skin rash, Limitation of joint mobility, Arthritis	ORPHA:93672
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Sagittal craniosynostosis, Absent t...	ORPHA:500150
Distal 22Q11.2 Microduplication Syndrome	Ventricular septal defect, Camptodactyly of finger, Unilateral renal agenesis, Hydrocephalus, Opt...	ORPHA:261337
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Arthritis	ORPHA:411536
Multiple Endocrine Neoplasia Type 2	Joint laxity, Elevated urinary catecholamine level, Aganglionic megacolon, Prominent corneal nerv...	ORPHA:653
Chromosome 17P13.1 Deletion Syndrome	Joint laxity, Posteriorly rotated ears, Spina bifida, High, narrow palate, Hydrocephalus, Elbow f...	OMIM:613776
Medulloblastoma	Elevated hepatic transaminase, Hydrocephalus, Adenomatous colonic polyposis, Bilateral sensorineu...	ORPHA:616
Xeroderma Pigmentosum	Conjunctival telangiectasia, Craniofacial hyperostosis, Cataract, Keratitis, Sensorineural hearin...	ORPHA:910
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Flexion co...	OMIM:601803
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Micromelia, Short neck, Deep palmar crease, Macular hypoplasia	ORPHA:1675
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Anemia, Tubulointerstitial nephritis, Gout	OMIM:174000
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Aprosencephaly And Cerebellar Dysgenesis	Retinal dysplasia, Talipes equinovarus, Craniosynostosis, Micrognathia	OMIM:601374
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Cardiomegaly, Cleft palate, Cardiomyopathy, Abnormal helix morphology,...	ORPHA:158687
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Fontaine Progeroid Syndrome	Atrial septal defect, Bicuspid aortic valve, Posteriorly rotated ears, Craniosynostosis, Protrudi...	OMIM:612289
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia, Low-set ears, Craniosynostosis	OMIM:613451
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Hydrocephalus, Cleft palate, Low-set ears, Ventriculomegaly	ORPHA:1812
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Riddle Syndrome	Pneumonia, Recurrent pneumonia, Arthritis, Otitis media, Recurrent sinusitis, Chronic sinusitis	ORPHA:420741
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Congenital Tracheomalacia	Ventricular septal defect, Tracheomalacia, Cardiomegaly, Esophageal atresia, Partial anomalous pu...	ORPHA:95430
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Xerostomia, Lymphadenopathy, Enlargement of parotid gland, Tubulointers...	ORPHA:79078
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Cherubism	Macular scar, Optic neuropathy, Narrow palate, Marcus Gunn pupil, Submandibular lymph node enlarg...	OMIM:118400
Holoprosencephaly 2	Median cleft lip and palate, Remnants of the hyaloid vascular system, Alobar holoprosencephaly, S...	OMIM:157170
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Cataract, Submucous cleft hard palate, Cleft palate, Microphth...	ORPHA:2250
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Rheumatoid arthritis	ORPHA:399180
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade...	ORPHA:139411
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Hydrocephalus, Bone cyst, Abnormal heart morphology, Mitral valve prol...	ORPHA:363700
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Glutaryl-Coa Dehydrogenase Deficiency	Communicating hydrocephalus, Glutaric aciduria, Chronic kidney disease, Retinal hemorrhage, Subep...	ORPHA:25
Tetrasomy 5P	Posteriorly rotated ears, Hydrocephalus, High palate, Low-set ears	ORPHA:3309
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinop...	ORPHA:2035
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Malabsorption, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting...	ORPHA:47159
Capillary Malformation-Arteriovenous Malformation	Neurogenic bladder, Abnormality of the lymphatic system, Hydrocephalus, Abnormal heart morphology	ORPHA:137667
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Ankylosis, Dilated cardiomyopathy, Renal artery stenosis, Hypophosphatemic rickets	OMIM:208000
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Linear Nevus Sebaceus Syndrome	EEG abnormality, Microphthalmia, Dandy-Walker malformation, Iris coloboma, Ventriculomegaly	ORPHA:2612
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Mixed hearing impairment, Optic atrophy, Cleft palate, Microphthalmia	OMIM:201180
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Cleft palate, Bilateral cleft lip and palate...	OMIM:610829
Insulin-Resistance Syndrome Type B	Skin rash, Pneumonia, Osteoarthritis, Leukopenia, Nephritis, Thrombocytopenia	ORPHA:2298
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Pneumonia, Myocarditis, Leukocytosis, Thrombocytopenia, Septic a...	ORPHA:544482
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Microcornea, High pala...	OMIM:309800
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Macular degeneration	OMIM:619780
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Joint laxity, Cataract, Bicuspid aortic valve, Sutural cataract, Muscular ventricular septal defe...	OMIM:612474
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydrocephalus, Mitral valve prolapse, High palate, Low-set ears, Ureteral triplication, Hydroneph...	OMIM:104350
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Low-set, posteriorly rotated ears, Cataract, Camptodactyly of finger, Conductive hearing impairme...	ORPHA:306542
Pallister-Hall Syndrome	Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Rib fusion, Polydactyly a...	ORPHA:672
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Cupped ear, High palate	OMIM:110100
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Renal corticomedullary cysts, Vent...	OMIM:219730
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Paternal Uniparental Disomy Of Chromosome 6	Joint laxity, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Abnormal earlobe morphology,...	ORPHA:96191
Iniencephaly	Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Hol...	ORPHA:63259
Absent Radius-Anogenital Anomalies Syndrome	Hydrocephalus, Rectal atresia, Perineal fistula, Rectovaginal fistula, Anal atresia	ORPHA:3016
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Posteriorly rotated ears, Uplifted earlobe, Cleft palate, Microcornea, Microtia, Ure...	OMIM:616734
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Joint laxity, Hepatom...	OMIM:243800
Oculoectodermal Syndrome	Limbal dermoid, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the corneal str...	OMIM:600268
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Urinary bladder inflammation, Urinary urgency, Hema...	ORPHA:556
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Lipemia retinalis, Hepatomegaly	OMIM:207750
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus, Microtia, Low-set ears, Ventriculomegaly	OMIM:613603
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid arthritis	ORPHA:79099
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Ablepharon Macrostomia Syndrome	Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Corneal erosion, Microtia, Atresia...	ORPHA:920
Tuberous Sclerosis Complex	Renal insufficiency, Retinal astrocytic hamartoma, Retinal hamartoma, Chronic kidney disease, Sta...	ORPHA:805
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morph...	ORPHA:449432
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice,...	OMIM:613471
Familial Hypocalciuric Hypercalcemia	Pancreatitis, Osteomalacia, Chondrocalcinosis	ORPHA:405
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hydrocephalus, Optic atrophy, Homocystinuria, Ventriculomegaly	ORPHA:395
Bosma Arhinia Microphthalmia Syndrome	Cataract, Hypospadias, Abnormal pinna morphology, Absent tragus, Cleft palate, High palate, Atres...	OMIM:603457
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Hydrocephalus, Normal-Pressure, 1	Normal pressure hydrocephalus, Urinary incontinence	OMIM:236690
Mohr Syndrome	Hydrocephalus, Cleft palate, Tongue nodules, Lobulated tongue, High palate, Conductive hearing im...	OMIM:252100
Medullary cystic kidney disease 2	Tubulointerstitial nephritis, Gout	OMIM:603860
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Aganglionic megacolon, Corneal opacity, Camptodactyly of finger, Keratitis, Corneal ...	ORPHA:2273
Neurodegeneration With Brain Iron Accumulation 1	Pigmentary retinopathy, Optic atrophy, Retinal degeneration, Acanthocytosis	OMIM:234200
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus	OMIM:617542
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Recurrent pneumonia	OMIM:619769
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus	OMIM:307000
Exstrophy-Epispadias Complex	Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Urinary incontinen...	ORPHA:322
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Dermatomyositis	Pericarditis, Abnormal eosinophil morphology, Myocarditis, Arthritis, Chondrocalcinosis	ORPHA:221
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Gout	ORPHA:79233
Hydrocephaly-Low Insertion Umbilicus Syndrome	Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Hypoplastic left h...	OMIM:100300
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Retinopathy, Hydrocephalus, Optic atrophy, Hearing impairment	ORPHA:220295
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Large earlobe, Hypoplasia of the ear cartilage, Microphthalmia, Iris col...	ORPHA:1236
Coffin-Siris Syndrome 12	Protruding ear, High palate, Gastroesophageal reflux, Patent foramen ovale, Simple ear, Joint lax...	OMIM:619325
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous...	OMIM:300967
Loeys-Dietz Syndrome 1	Joint laxity, Bicuspid aortic valve, Craniosynostosis, Eosinophilic infiltration of the esophagus...	OMIM:609192
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Semilobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Flexion contracture, Cleft palate, Abnormal hear...	ORPHA:220386
Alobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Flexion contracture, Cleft palate, Abnormal hear...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Flexion contracture, Cleft palate, Abnormal hear...	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Sensorineural hearing impairment, Flexion contracture, Cleft palate, Abnormal hear...	ORPHA:93924
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Abnormal large intestine morphology, Narrow palate, Hamartomatous polyposis...	ORPHA:109
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	ORPHA:2717
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma, Tinnitus, Hearing impairment, Cardiomegaly	ORPHA:79280
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bottom foot, Ulnar bowing, Humeroradi...	OMIM:201750
Dysbetalipoproteinemia	Acute pancreatitis, Gout	ORPHA:412
Subcorneal Pustular Dermatosis	Pustule, Rheumatoid arthritis	ORPHA:48377
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Low back pain, Deep dermal perivascular inflammatory infiltrate, Psoriasiform ...	ORPHA:49041
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly	ORPHA:91387
Glycogen Storage Disease Ic	Cyclic neutropenia, Chronic pancreatitis, Gout, Inflammation of the large intestine, Stomatitis	OMIM:232240
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Pectus excavatum, Osteoarthritis, Osteolysis, Join...	ORPHA:286
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures	ORPHA:3337
Frontofacionasal Dysplasia	Cataract, Microcornea, Bifid uvula, Cranium bifidum occultum, Microphthalmia, Iris coloboma	OMIM:229400
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Craniopharyngioma	Papilledema, Hydrocephalus, Optic atrophy, Increased susceptibility to fractures, Hearing impairment	ORPHA:54595
Witteveen-Kolk Syndrome	Uplifted earlobe, High, narrow palate, Protruding ear, Anisocoria, Male urethral meatus stenosis,...	OMIM:613406
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Malignant gastrointestinal tract tumors, Pancreatic adenocarcin...	ORPHA:99889
Thoracoabdominal Syndrome	Hypospadias, Hydrocephalus, Anencephaly, Cleft palate, Transposition of the great arteries, Ectop...	OMIM:313850
Oxoglutaric Aciduria	Hydrocephalus, Abnormal urine alpha-ketoglutarate concentration, Abnormal salivary gland morphology	ORPHA:31
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti...	OMIM:605808
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Knee flexion contrac...	OMIM:606170
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia	OMIM:248450
Fraser Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:2052
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Gastroesophageal r...	ORPHA:64
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Ventriculomegaly, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus, Joint hypermo...	ORPHA:457284
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy	OMIM:616722
Gitelman Syndrome	Gout, Tubulointerstitial nephritis, Iron deficiency anemia, Hashimoto thyroiditis, Chondrocalcinosis	ORPHA:358
Loeys-Dietz Syndrome 2	Joint laxity, Bicuspid aortic valve, Craniosynostosis, Eosinophilic infiltration of the esophagus...	OMIM:610168
Ciliary Dyskinesia, Primary, 43	Abdominal situs inversus, Noncommunicating hydrocephalus	OMIM:618699
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature...	ORPHA:1677
Phosphoribosylpyrophosphate Synthetase Superactivity	Gout	OMIM:300661
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Joint hyperflexibility, Arthritis	ORPHA:93111
Hydrocephalus, Congenital, 4	Communicating hydrocephalus, Ventriculomegaly	OMIM:618667
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Keratoconjunctivitis sicca, Retinal degeneration	OMIM:618479
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Sacral Defect With Anterior Meningocele	Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac...	OMIM:600145
Choreoacanthocytosis	Splenomegaly, Arthritis, Abnormal erythrocyte enzyme level, Acanthocytosis	ORPHA:2388
Chronic Graft Versus Host Disease	Fasciitis, Pancytopenia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Arthr...	ORPHA:99921
Pagod Syndrome	Abnormal clavicle morphology, Abnormality of the spleen, Optic atrophy, Abnormal rib morphology	ORPHA:991
Fraser Syndrome 3	Hypoplasia of penis, Hydrocephalus, Ureteral agenesis, Low-set ears, Ascites, Simple ear	OMIM:617667
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Alport Syndrome	Macular degeneration, Retinal flecks, Nephritis	ORPHA:63
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Ectopic kidney, Anotia, Conductive hearing impairment, Lim...	OMIM:164210
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Septo-optic dysplasia, Crossed fused renal ectopia, Hypospadias, Upl...	OMIM:619841
Cancer-Associated Retinopathy	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa...	ORPHA:71505
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Macular degeneration	ORPHA:247234
Basal Cell Nevus Syndrome 2	Hydrocephalus	OMIM:620343
Meningioma	Papilledema, Facial palsy, Urinary incontinence, Hydrocephalus, Tinnitus, Neoplasm of the tongue	ORPHA:2495
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Large Congenital Melanocytic Nevus	Hydrocephalus	ORPHA:626
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Kera...	OMIM:308205
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypsarrhythmia, Renal artery stenosis, Lisch no...	OMIM:162200
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Osteoarthritis	OMIM:619714
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Communicating hydrocephalus, Joint laxity, Posteriorly rotated ears, High palate, Low-set ears, M...	OMIM:617011
Spinocerebellar Ataxia Type 7	Cone/cone-rod dystrophy, Macular degeneration, Abnormal fundus morphology	ORPHA:94147
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Communicating hydrocephalus, Low-set, posteriorly rotated ears, Joint laxity, Limitation of joint...	ORPHA:457359
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Hydrocephalus, Cleft soft palate, Cleft palate	ORPHA:2736
Holoprosencephaly 1	Alobar holoprosencephaly, Single ventricle, Microphthalmia, Micropenis, Ethmocephaly, Median clef...	OMIM:236100
Lhermitte-Duclos Disease	Macroglossia, Hydrocephalus	ORPHA:65285
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Pituitary Deficiency Due To Rathke Cleft Cysts	Hydrocephalus, Optic nerve compression	ORPHA:91350
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Renal Cysts And Diabetes Syndrome	Gout	OMIM:137920
Isolated Posterior Meningocele	Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Occipital meningo...	ORPHA:268810
Treacher Collins Syndrome 1	Cleft soft palate, Bilateral microphthalmos, Cleft palate, Abnormal heart morphology, Microtia, A...	OMIM:154500
Hypoplasminogenemia	Hydrocephalus, Duodenal ulcer, Nephrolithiasis, Dandy-Walker malformation	ORPHA:722
Singleton-Merten Syndrome 1	Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O...	OMIM:182250
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Isolated Arrhinia	Microphthalmia, Microtia	ORPHA:1134

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
Eye - MPATH pathological process term atrophy	Chsy1^em1(IMPC)Mbp	HOM		Early adult
Eye - MPATH pathological process term developmental dysplasia	Chsy1^em1(IMPC)Mbp	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 Chsy1.

No publications found that use IMPC mice or data for Chsy1.

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MGI Allele	Allele Type	Produced
Chsy1^em1(IMPC)Mbp	Exon Deletion	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: Chsy1 MGI:2681120

Gene Summary

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Phenotypes

lacZ Expression

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Human diseases caused by Chsy1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data