Not currently registered for phenotyping at IMPC

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

Gene Summary

iduronate 2-sulfatase

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ids mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

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

Disease Similarity of
Matching phenotypes Source
Auditory Neuropathy, Autosomal Dominant, 1
Absence of acoustic reflex, Abnormal auditory evoked potentials, Sensorineural hearing impairment... OMIM:609129
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex OMIM:601071
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Joint laxity, Constricted iliac wing, Chondroitin sulfate excretion in ... OMIM:253000
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the middle ear ossicles, Abnormality of the pinna, ... OMIM:221300
Arthrogryposis, Distal, Type 1A
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Stiff ... OMIM:108120
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Joint laxity, Constricted iliac wing, Ovoid vertebral bodies, Mandibula... OMIM:253010
Ossicular Malformations, Familial
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles OMIM:165680
Mueller-Weiss Syndrome
Fragmented, irregular epiphyses, Limitation of movement at ankles, Difficulty walking, Pes planus... ORPHA:566943
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the m... ORPHA:582
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Sandal gap, Abnormal pelvi... OMIM:215140
Conductive Deafness-Malformed External Ear Syndrome
Abnormality of the middle ear ossicles, Overfolded helix, Conductive hearing impairment, Abnormal... ORPHA:3216
Mucopolysaccharidosis, Type Vii
Scoliosis, Hirsutism, Anterior beaking of lumbar vertebrae, Metatarsus adductus, Acetabular dyspl... OMIM:253220
Trisomy 20P
Scoliosis, Cryptorchidism, Coarse hair, Micrognathia, Short neck, Abnormality of the kidney, Low ... ORPHA:261318
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Flared iliac wing, Split hand, Ovoid vertebral bodies, Hirsutism, Cervi... OMIM:253200
Oculoskeletodental Syndrome
Scoliosis, Cryptorchidism, Macroglossia, Low anterior hairline, Renal agenesis, Low posterior hai... OMIM:618440
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormality of the fourth metatarsal bone, Flattened me... ORPHA:564003
Kniest Dysplasia
Laryngotracheomalacia, Spinal cord compression, Joint stiffness, Delayed epiphyseal ossification,... ORPHA:485
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Pes planus, Flattened femoral head, Thoracic platyspond... ORPHA:457395
Cartilage-Hair Hypoplasia
Scoliosis, Accelerated skeletal maturation, Spinal dysraphism, Neutropenia, Anemia, Abnormality o... ORPHA:175
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Abnormality of the middle ear ossicles, Abnormality of the malleus, Conductive hearing impairment... OMIM:128980
Mucolipidosis Ii Alpha/Beta
Flared iliac wing, Split hand, Carpal bone hypoplasia, Ovoid vertebral bodies, Beaking of vertebr... OMIM:252500
Osteochondritis Dissecans
Abnormality of the knee, Limited elbow extension, Abnormality of tibia morphology, Joint swelling... ORPHA:2764
Solitary Bone Cyst
Prominent calcaneus, Abnormal ilium morphology, Abnormality of tibia morphology, Abnormal form of... ORPHA:83468
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Enlarged interphalangeal joints, Joint swelling, E... OMIM:208230
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Hirsutism, Dense calvaria, Heparan sulfate excretio... OMIM:252900
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Macrovesicular hepatic steatosis, Hirsutism, Coarse hair, Neutropenia, Acetabu... OMIM:617303
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Hirsutism, Dense calvaria, Heparan sulfate excretio... OMIM:252920
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Enlarged joints, Decreased muscle mass, Joint laxity, Recurrent fractures, Coarse h... OMIM:248010
Mucopolysaccharidosis Type 1
Scoliosis, Low anterior hairline, Generalized hirsutism, Abnormality of epiphysis morphology, Abn... ORPHA:579
Schimke Immunoosseous Dysplasia
Bulbous nose, Thoracic kyphosis, Ovoid vertebral bodies, Elevated circulating thyroid-stimulating... OMIM:242900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Broad thumb, Increased susceptibility to fractures, Decreased testicular size, Sh... ORPHA:251028
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Pes planus, Thoracic kyphosis... OMIM:223800
Mucopolysaccharidosis, Type Iiid
Recurrent upper respiratory tract infections, Flexion contracture, Hirsutism, Coarse hair, Hepara... OMIM:252940
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Abnormal hip joint morphology, Enlarged interphalangeal joints, Joint ... ORPHA:1159
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Hirsutism, Dense calvaria, Heparan sulfate excretio... OMIM:252930
Mucopolysaccharidosis Type 6
Genu valgum, Macroglossia, Recurrent upper respiratory tract infections, Mucopolysacchariduria, O... ORPHA:583
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Cervical cord compression, Split hand, Kyphosis, Flexion... OMIM:309900
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Scoliosis, Carious teeth, ... OMIM:265800
Deafness, X-Linked 6
Hearing impairment, Cochlear malformation OMIM:300914
Arthrogryposis, Distal, Type 2B1
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Arthrogryposis multiplex congenita, Absen... OMIM:601680
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Weaver Syndrome
Scoliosis, Cryptorchidism, Hydrocele testis, Accelerated skeletal maturation, Broad thumb, Campto... OMIM:277590
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Anteverte... ORPHA:2107
Mucopolysaccharidosis Type 7
Scoliosis, Epiphyseal stippling, Mucopolysacchariduria, Abnormal pleura morphology, Anterior beak... ORPHA:584
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone... ORPHA:628
Panner Disease
Limited elbow extension, Joint swelling, Large elbow, Abnormality of the humerus, Limited elbow m... ORPHA:97336
Hajdu-Cheney Syndrome
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Bone pain, Coarse hair, Short distal ... ORPHA:955
Mucopolysaccharidosis Type 3
Scoliosis, Hirsutism, Coarse hair, Progressive inability to walk, Increased susceptibility to fra... ORPHA:581
Hurler Syndrome
Scoliosis, Abnormality of the elbow, Abnormality of the tonsils, Short neck, Depressed nasal brid... ORPHA:93473
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Camptodactyly, Wide nasal bridge, L... OMIM:612513
Chondrodysplasia Calcificans Metaphysealis
Mucopolysacchariduria, Metaphyseal dysplasia, Metaphyseal chondrodysplasia OMIM:215050
Bowen-Conradi Syndrome
Rocker bottom foot, Cryptorchidism, Camptodactyly of finger, Micrognathia, Joint stiffness, Promi... ORPHA:1270
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Acrofacial Dysostosis, Catania Type
Cryptorchidism, Carious teeth, Short nose, Finger syndactyly, Microretrognathia, Coarse hair, Bil... ORPHA:1786
Mucopolysaccharidoses, Unclassified Types
Mucopolysacchariduria, Progressive joint destruction, Finger swelling OMIM:252700
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Thoracic kyphosis, Abnormality of the elbow, Ovoid vertebr... ORPHA:163649
Multiple Sulfatase Deficiency
Broad thumb, Mucopolysacchariduria, Broad hallux phalanx, Coarse hair, Hepatomegaly, Thick eyebro... ORPHA:585
Arthrogryposis, Distal, Type 5D
Scoliosis, Hyperlordosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Decreased mu... OMIM:615065
Hurler Syndrome
Flared iliac wing, Hirsutism, Joint stiffness, Short clavicles, Short neck, Depressed nasal bridg... OMIM:607014
Spinocerebellar Ataxia-Dysmorphism Syndrome
Cubitus valgus, Short nose, Genu recurvatum, Joint hyperflexibility, Coarse hair, Slender long bo... ORPHA:1185
Craniodiaphyseal Dysplasia
Cranial hyperostosis, Facial hyperostosis, Diaphyseal sclerosis OMIM:218300
Osteochondrosis Of The Tarsal Bone
Flattening of the talar dome, Abnormal tarsal ossification, Pedal edema, Tarsal sclerosis, Tarsal... ORPHA:563991
Silver-Russell Syndrome
Scoliosis, Cryptorchidism, Lower limb asymmetry, Decreased muscle mass, Abnormal vagina morpholog... ORPHA:813
Larsen-Like Syndrome
Joint laxity, Wide anterior fontanel, Absent nasal bridge, Radial deviation of the 4th finger, De... OMIM:608545
Wilson Disease
Aggressive behavior, Joint swelling, Depression, Difficulty walking, Hypersexuality, Weight loss,... ORPHA:905
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Scoliosis, Camptodactyly of finger, Carious teeth, Sparse hair, Kyphosis, Joint contracture of th... ORPHA:1883
Orofaciodigital Syndrome Type 1
Abnormal dental enamel morphology, Dystonia, Tarsal synostosis, Underdeveloped nasal alae, Choana... ORPHA:2750
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Hypoplastic toenails, Small nail, Coarse hair, Absent facial hair, Palmar hype... OMIM:613573
Atresia Of External Auditory Canal And Conductive Deafness
Conductive hearing impairment, Atresia of the external auditory canal, Aplasia/Hypoplasia of the ... OMIM:108760
Farber Lipogranulomatosis
Joint swelling, Irritability, Failure to thrive, Splenomegaly, Arthritis OMIM:228000
Classical-Like Ehlers-Danlos Syndrome Type 2
Joint hypermobility, Cryptorchidism, Elbow dislocation, Phalangeal dislocation, Pes planus, Sanda... ORPHA:536532
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... OMIM:600791
Mccune-Albright Syndrome
Scoliosis, Accelerated skeletal maturation, Abnormal endocrine physiology, Elevated circulating g... ORPHA:562
Familial Visceral Myopathy
Camptodactyly of finger, Megacystis, Anonychia, Hydroureter, Micrognathia, Abdominal situs invers... ORPHA:2604
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
2-3 finger syndactyly, Finger syndactyly, Craniofacial hyperostosis, Abnormal cortical bone morph... ORPHA:3152
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Cerebellar Ataxia And Ectodermal Dysplasia
Alopecia, Sparse hair, Ataxia OMIM:212835
Hypotrichosis 4
Sparse hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Pili torti, Sparse eyelashes OMIM:146550
Weaver Syndrome
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Broad thumb, Sandal gap, Joint stiffn... ORPHA:3447
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Scoliosis, Platyspondyly, Short nose, Anteverted nares, Diaphragmatic eventration, Osteopenia, Co... OMIM:612394
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Cryptorchidism, Camptodacty... ORPHA:96334
Trichohepatoneurodevelopmental Syndrome
Scoliosis, Joint laxity, Bulbous nose, Coarse hair, Decreased liver function, Hypertrichosis, Hip... OMIM:618268
Otopalatodigital Syndrome Type 1
Short hallux, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carpal bones, Hyp... ORPHA:90650
Hypotrichosis Simplex
Sparse hair, Sparse scalp hair, Sparse and thin eyebrow, Alopecia, Sparse body hair, Sparse eyela... ORPHA:55654
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormality of limb bone morphology, Joint swelling, Abnormality of epiphysis morphology, Synovit... ORPHA:85435
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A... ORPHA:85438
Cutis Laxa, Autosomal Recessive, Type Iia
Scoliosis, Joint hypermobility, Carious teeth, Congenital hip dislocation, Short nose, Wide anter... OMIM:219200
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Areflexia of lower limbs, Arthrogryposis multiplex congenita, Distal amyotrophy, C... OMIM:162370
Odonto-Onycho Dysplasia-Alopecia Syndrome
Hypoplastic toenails, Sparse hair, Palmoplantar keratoderma, Sparse and thin eyebrow, Alopecia, S... ORPHA:2722
Alopecia Areata 2
Alopecia of scalp, Alopecia totalis, Patchy alopecia, Alopecia universalis OMIM:610753
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration OMIM:258700
Camurati-Engelmann Disease, Type 2
Hyperostosis, Osteopenia, Waddling gait OMIM:606631
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Abnormality of the urinary system, Abnormal cortical bone mo... ORPHA:2204
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hip dysplasia, Rocker bottom foot, Abnormal anterior horn cell morphology, Arthrogryposis multipl... OMIM:611890
Severe X-Linked Intellectual Disability, Gustavson Type
Rocker bottom foot, Equinovarus deformity, Congenital hip dislocation, Short nose, Recurrent uppe... ORPHA:3078
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Short neck, Micrognathia, Mesomelic leg shortening, Hypoplasia of proximal rad... ORPHA:2756
Acrootoocular Syndrome
Small hypothenar eminence, Grayish enamel, Sandal gap, Micrognathia, Small thenar eminence, Abnor... ORPHA:2980
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Pigmented Villonodular Synovitis
Abnormality of the knee, Abnormal hip joint morphology, Joint swelling, Chondrocalcinosis, Lymphe... ORPHA:66627
Larsen Syndrome
Scoliosis, Cryptorchidism, Short metatarsal, Joint laxity, Elbow dislocation, Spinal cord compres... OMIM:150250
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Anteverted nares, Broad palm, Genu recurvatum, Kyphosis, Ma... OMIM:300602
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Ataxia, Increased bone m... OMIM:136300
Alopecia Areata 1
Nail pits, Trachyonychia, Alopecia totalis, Alopecia universalis, Patchy alopecia OMIM:104000
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Joint hypermobility, Cryptorchidism, Biconcave vertebral bodies, Microg... OMIM:130720
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Chromosome 3Q29 Duplication Syndrome
Short nose, Low posterior hairline, Abnormally large globe, Wide nasal bridge OMIM:611936
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Macroorchidism, Promine... ORPHA:776
Occipital Horn Syndrome
Scoliosis, Large iliac wing, Pes planus, Recurrent urinary tract infections, Coarse hair, Jaundic... ORPHA:198
Familial Thyroid Dyshormonogenesis
Macroglossia, Increased radioactive iodine uptake, Goiter, Delayed proximal femoral epiphyseal os... ORPHA:95716
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Anteverted nares, Broad palm, Genu recurvatum, Kyphosis, Ma... OMIM:300431
Xp22.13P22.2 Duplication Syndrome
Scoliosis, Sparse hair, Broad nasal tip, Recurrent upper respiratory tract infections, Mandibular... ORPHA:284180
Hypotrichosis 5
Absent pubic hair, Absent axillary hair, Alopecia, Thin eyebrow, Sparse eyelashes OMIM:612841
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cryptorchidism, Carious teeth, Nail pits, Hydroureter, Split hand, Duplicated collecting system, ... OMIM:604292
Dyskeratosis Congenita, Autosomal Recessive 6
Sparse hair, Ataxia, Failure to thrive, Alopecia, Microcephaly, Nail dystrophy OMIM:616353
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thoracic kyphosis, Joint stiffness, Hypertrichosis, Leukopenia, Anemia, Short neck, Deep palmar c... ORPHA:505248
Craniolenticulosutural Dysplasia
Scoliosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Carious teeth, Delayed eru... OMIM:607812
Deafness, Autosomal Dominant 9
Vertigo, Cochlear degeneration, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... OMIM:601369
Three M Syndrome 2
Prominent calcaneus, Hyperlordosis, Delayed eruption of teeth, Scapular winging, Anteverted nares... OMIM:612921
Melnick-Needles Syndrome
Pes planus, Coarse hair, Short distal phalanx of finger, Short clavicles, Cone-shaped epiphyses o... OMIM:309350
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Wide anterior fontanel, Curly hair, Increased bone mineral density, Abnormal foot ... ORPHA:85184
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Metaphyseal chondrodysplasia, Short nose, Rhizomelia, Metaphyseal cupping of metac... ORPHA:163966
Megacystis, Hepatic steatosis, Primary adrenal insufficiency, Abnormality of the urinary system, ... ORPHA:977
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Clubbing of toes, Osteo... ORPHA:1525
Craniofrontonasal Dysplasia
Scoliosis, Craniosynostosis, Broad hallux phalanx, Widow's peak, Ridged fingernail, Sandal gap, C... ORPHA:1520
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
X-Linked Intellectual Disability, Hedera Type
Scoliosis, Inability to walk, Absent Achilles reflex, Hyporeflexia of upper limbs, Hypomimic face... ORPHA:93952
Hypotrichosis 11
Sparse hair, Absent axillary hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of th... OMIM:615059
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Combined Oxidative Phosphorylation Defect Type 39
Prominent calcaneus, Congenital foot contractures, Cryptorchidism, Scoliosis, Loss of ability to ... ORPHA:565624
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis OMIM:106400
Three M Syndrome 3
Prominent calcaneus, Joint hypermobility, Hip dysplasia, Hyperlordosis, Short neck, Increased ver... OMIM:614205
Ossification Of The Posterior Longitudinal Ligament Of Spine
Abnormality of the vertebral column, Increased bone mineral density, Spinal cord compression, Ect... OMIM:602475
Multiple Sulfatase Deficiency
Broad thumb, Anteverted nares, Mucopolysacchariduria, Ataxia, Hepatomegaly, Splenomegaly, Broad h... OMIM:272200
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly, Abnormality of the anterior pituitary, Renal hypoplasia, Coarse hair,... ORPHA:75389
Intermittent Hydrarthrosis
Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis ORPHA:329967
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Coronal cleft vertebrae, Calcific stippling of infantile cartilaginous skel... OMIM:215100
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Proteinuria, Small for gestational age, Nephrotic syndrome OMIM:215250
Bowen-Conradi Syndrome
Rocker bottom foot, Abnormal joint morphology, Clinodactyly of the 5th finger, Micrognathia, Prom... OMIM:211180
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Scoliosis, Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morpholog... ORPHA:457059
Joint swelling, Weight loss, Abnormality of the femoral metaphysis, Abnormality of the tibial met... ORPHA:668
Mucopolysaccharidosis Type 2, Severe Form
Spinal cord compression, Increased size of nasopharyngeal adenoids, Wide nose, Hip dysplasia, Mac... ORPHA:217085
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Renal, Genital, And Middle Ear Anomalies
Hearing impairment, Abnormality of the middle ear ossicles OMIM:267400
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Mucopolysaccharidosis Type 2, Attenuated Form
Spinal cord compression, Increased size of nasopharyngeal adenoids, Wide nose, Hip dysplasia, Mac... ORPHA:217093
Hyperostosis, Ectopic ossification in muscle tissue, Increased bone mineral density ORPHA:2485
Alopecia Universalis
Absent eyelashes, Patchy alopecia, Alopecia universalis, Absent eyebrow ORPHA:701
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Arthrogryposis multiplex congenita, Elbow dislocation, Pes planus, Long... ORPHA:800
Alopecia-Intellectual Disability Syndrome
Scoliosis, Hypergonadotropic hypogonadism, Split hand, Flexion contracture, Sparse scalp hair, Ab... ORPHA:2850
Nicolaides-Baraitser Syndrome
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Sandal gap, Abnormality of the metaca... ORPHA:3051
Decreased muscle mass, Abnormality of the nail, Mucopolysacchariduria, Hypothyroidism, Kyphosis, ... ORPHA:349
Graham Little-Piccardi-Lassueur Syndrome
Sparse scalp hair, Sparse pubic hair, Sparse axillary hair, Alopecia ORPHA:505
Juvenile Idiopathic Arthritis
Abnormal sacroiliac joint morphology, Nail pits, Abnormality of the nail, Joint swelling, Abnorma... ORPHA:92
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Congenital alopecia totalis, Fingernail dysplasia, Palmoplantar keratoderma, Palmoplantar hyperke... ORPHA:1010
Fetal Hydantoin Syndrome
Cryptorchidism, Low posterior hairline, Short nose, Bifid scrotum, Coarse hair, Short distal phal... ORPHA:1912
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Limited elbow extension, Limited hip extension, Brain stem compression, Generalized joint laxity,... OMIM:100800
Cardiac-Valvular Ehlers-Danlos Syndrome
Genu valgum, Recurrent shoulder dislocation, Joint hypermobility, Tendon rupture, Absent phalange... ORPHA:230851
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormally large globe, Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Lumbosacral meningocele, Nephroblastomatosis, Short neck, Short nose, Enlarged kidney, Micrognath... OMIM:608022
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Carious teeth, Flexion contracture, Central adrenal insufficiency, Adrenal insufficiency, Delayed... OMIM:612079
Bangstad Syndrome
Progressive cerebellar ataxia, Abnormally large globe OMIM:210740
Bullous Dystrophy, Hereditary Macular Type
Abnormality of the nail, Short finger, Alopecia totalis, Microcephaly, Tapered finger OMIM:302000
Genu valgum, Long penis, Macroorchidism, Wide nasal bridge, Short neck, Delayed skeletal maturation ORPHA:2477
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Goiter, Chronic noninfectious lymphadenopathy, Recurrent fractures, ... ORPHA:319487
Koolen-De Vries Syndrome Due To A Point Mutation
Scoliosis, Joint hypermobility, Cryptorchidism, Craniosynostosis, Pear-shaped nose, Joint laxity,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Craniosynostosis, Pear-shaped nose, Joint laxity,... ORPHA:363958
Bazex-Dupré-Christol Syndrome
Sparse hair, Abnormality of finger, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Spar... ORPHA:113
Branchiootic Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Morphological abnormality ... ORPHA:52429
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Craniofacial hyperostosis, Mandibular prognathia, Craniofacial osteosclerosis... OMIM:122860
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Diffuse palmoplantar hyperkeratosis, Alopecia of scalp, Alopecia, Dystrophic toenail, Sparse body... OMIM:617294
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Cryptorchidism, Arthrogryposis multiplex congenita, Micrognathia, Camptodacty... OMIM:618393
Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan
Microcephaly, Sparse hair, Alopecia OMIM:203600
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Goiter, Abnormality of epiphysis morphology, Decreased circulating T4 level, Absent... ORPHA:226313
Noonan Syndrome
Scoliosis, Cryptorchidism, Abnormality of the lymphatic system, Low posterior hairline, Radioulna... ORPHA:648
Craniolenticulosutural Dysplasia
Scoliosis, Delayed eruption of teeth, Carious teeth, Hypoplasia of teeth, Sparse hair, Joint hype... ORPHA:50814
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Femur fracture, Sandwich appearance of vertebral bodies, Osteope... OMIM:259700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Abnormal metatarsal morphology, Hip osteoarthritis... ORPHA:85408
Digitotalar Dysmorphism
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger OMIM:126050
Eec Syndrome
Carious teeth, Abnormal dental enamel morphology, Nail pits, Split hand, Choanal atresia, Coarse ... ORPHA:1896
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bo... ORPHA:210110
Arthrogryposis, Distal, Type 1C
Scoliosis, Rocker bottom foot, Camptodactyly of finger, Shoulder flexion contracture, Cryptorchid... OMIM:619110
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Wormian bones, Dislocated radial head, Joint hypermobility, Scoliosis, Platyspondyl... OMIM:614856
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Underdeveloped nasal alae, Coarse hair, Pancreatic hypo... ORPHA:83617
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Arthropathy, Sclerotic cranial sutures, Osteolysis, Abnormal form of the vertebral ... ORPHA:371428
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Large earlobe, Absent tragus, Overfolded helix, Conductive hearing ... ORPHA:79113
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Abnormal form of the vertebral bodies, Bone cyst, Gait distur... ORPHA:93160
Chondrodysplasia Punctata, Autosomal Dominant
Scoliosis, Epiphyseal stippling, Hypoplasia of the nasal bone, Sparse hair, Coarse hair, Hip cont... OMIM:118650
Pseudoleprechaunism Syndrome, Patterson Type
Hyperplasia of the maxilla, Joint swelling, Palmoplantar cutis laxa, Hirsutism, Flat acetabular r... ORPHA:2976
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Micrognathia, Camptodactyly... OMIM:214150
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormal renal tubule morphology, Abnormality of epiphysis morphology... ORPHA:2785
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Hypoplasia of the thymus, Hypoplastic nasal septum, Aplasia/hypopla... ORPHA:40366
Sinding-Larsen-Johansson Disease
Osteochondrosis, Joint swelling, Limitation of knee mobility ORPHA:97337
Lethal Recessive Chondrodysplasia
Accelerated skeletal maturation, Macroglossia, Flared elbow metaphyses, Generalized osteosclerosi... ORPHA:1423
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Genu valgum, Platyspondyly, Ureteral obstruction, Joint la... OMIM:304150
Otopalatodigital Syndrome Type 2
Scoliosis, Tarsal synostosis, Elbow dislocation, Flared iliac wing, Hypoplastic frontal sinuses, ... ORPHA:90652
Symptomatic Form Of Hemochromatosis Type 1
Lethargy, Joint swelling, Apathy, Stiff interphalangeal joints, Weight loss, Splenomegaly, Abnorm... ORPHA:465508
Microcephalic Primordial Dwarfism, Montreal Type
Alopecia of scalp, Abnormally large globe, Premature graying of hair OMIM:210700
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Abnormality of epiphysis morphology, Recurrent fractures, Generalized... ORPHA:53
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Recurrent pneumonia, Dystonia, Megacystis, Pulmonary fibrosis, Elevat... ORPHA:209905
Ectodermal Dysplasia 6, Hair/Nail Type
Dystrophic toenail, Sparse hair, Alopecia, Thin toenail OMIM:614928
Kerion Celsi
Alopecia, Lymphadenopathy ORPHA:499
Chondrodysplasia, Blomstrand Type
Accelerated skeletal maturation, Squared iliac bones, Advanced tarsal ossification, Generalized o... OMIM:215045
Thumb Deformity And Alopecia
Alopecia, Short thumb OMIM:188150
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Delayed pubic bone ossification, Atlantoaxial instability, Platyspondyly, Ovoid verteb... OMIM:183900
Fontaine Progeroid Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Mandibular prognathia, Scrotal hypoplasia, Coarse ha... OMIM:612289
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Accelerated skeletal maturation, Carious teeth, Pes planus, Small epiphyses, Short fem... OMIM:618363
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Bent Bone Dysplasia Syndrome
Hirsutism, Abnormally large globe, Coronal craniosynostosis OMIM:614592
Gm1 Gangliosidosis Type 1
Platyspondyly, Macroglossia, Broad long bone diaphyses, Flared iliac wing, Beaking of vertebral b... ORPHA:79255
Mental Retardation, Autosomal Dominant 34
Curly hair, 2-3 toe syndactyly, Coarse hair, Synophrys, Short foot, Anteverted nares, Broad-based... OMIM:616351
Rheumatoid Arthritis
Joint swelling, Swan neck-like deformities of the fingers, Rheumatoid arthritis, Weight loss, Int... OMIM:180300
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Lethargy, Goiter, Delayed proximal femoral epiphyseal ossification, Increased pitui... ORPHA:90674
Buschke-Ollendorff Syndrome
Craniosynostosis, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Abnormal bone st... ORPHA:1306
Kaposiform Lymphangiomatosis
Abnormality of the ischium, Anemia, Lymphangioma, Abnormal sacrum morphology, Osteolysis, Multipl... ORPHA:464329
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Arthritis ORPHA:1416
Arthrogryposis, Distal, Type 1B
Rocker bottom foot, Arthrogryposis multiplex congenita, Camptodactyly, Contractures involving the... OMIM:614335
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility ORPHA:93474
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Mandibular prognathia, Choanal atre... ORPHA:2658
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Joint hypermobility, Delayed skeletal maturation, Clinodactyly, Fine hair, Fragile nails ORPHA:500166
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Onychogryposis of fingernail, Sparse hair, Palmoplantar keratoderma, Fin... ORPHA:2251
Scoliosis, Sclerotic vertebral body, Abnormal form of the vertebral bodies, Kyphosis, Abnormal co... ORPHA:2777
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Abnormal thumb morphology, Bulbous nose, Mandibular prognathia, Macroorchidism... ORPHA:324410
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Multinodular goiter, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Impaired sensitivity to thyroid hormone, Epiphyseal stippling, Goiter OMIM:274300
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Short nose, Finger syndactyly, Micrognathia, Joint hyperflexi... ORPHA:1974
Vertical Talus, Congenital
Rocker bottom foot, Calcaneovalgus deformity, Equinus calcaneus, Arthritis OMIM:192950
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Craniosynostosis, Facial palsy, Increased bone mineral density ORPHA:178377
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Macroglossia, Massively thickened long bone cortices, Hyperlordosis, Ca... ORPHA:1798
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Multinodular goiter, Preaxial foot polydactyly, Bilateral triphalange... OMIM:138790
Deafness, X-Linked 2
Progressive sensorineural hearing impairment, Stapes ankylosis, Conductive hearing impairment, Mi... OMIM:304400
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Lower limb muscle weakness, Rhabdomyolysis, Chronic hepatic failure, Cholestasis, Skele... ORPHA:746
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Majeed Syndrome
Hypochromic microcytic anemia, Metaphyseal irregularity, Leukocytosis, Congenital hypoplastic ane... ORPHA:77297
Trichodysplasia-Xeroderma Syndrome
Trichodysplasia, Coarse hair, Sparse scalp hair, Sparse and thin eyebrow, Brittle hair, Alopecia,... ORPHA:3361
Mental retardation, x-linked, syndromic, Turner type
Limited elbow extension, Macroorchidism, Tapered finger OMIM:300706
Distal Arthrogryposis Type 1
Overlapping fingers, Rocker bottom foot, Camptodactyly of finger, Talipes, Joint stiffness, Abnor... ORPHA:1146
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Pear-shaped nose, Carious teeth, Short metatarsal, Accelerated bone age after puberty,... OMIM:190350
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Cryptorchidism, Postaxial hand polydactyly, Toe syndactyly, Short ... ORPHA:3082
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Carious teeth, Delayed closure of the anterior fontanelle, Decreased muscle mass, Congenital hip ... ORPHA:357074
Alopecia, Psychomotor Epilepsy, Pyorrhea, And Mental Subnormality
Congenital alopecia totalis, Alopecia universalis OMIM:104130
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Cryptorchidism, Curly eyelashes, Low posterior hairline, Short neck, Depressed nasal bridge, Hypo... ORPHA:163654
Lipoid Proteinosis Of Urbach And Wiethe
Patchy alopecia, Aggressive behavior OMIM:247100
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormality of the lymph nodes, Pa... ORPHA:97290
Schaaf-Yang Syndrome
Scoliosis, Rocker bottom foot, Cryptorchidism, Arthrogryposis multiplex congenita, Inability to w... OMIM:615547
Gorlin-Chaudhry-Moss Syndrome
Low anterior hairline, Coarse hair, Short distal phalanx of finger, Abnormality of the metacarpal... ORPHA:2095
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Cryptorchidism, Arthrogryposis multiplex congenita, Bulbous nose, Micrognathi... OMIM:618766
Patterson Pseudoleprechaunism Syndrome
Irregular acetabular roof, Genu valgum, Joint swelling, Palmoplantar cutis laxa, Hirsutism, Large... OMIM:169170
Squamous Cell Carcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy ORPHA:99977
Renpenning Syndrome
Abnormal thumb morphology, Mandibular prognathia, Thin eyebrow, Hypospadias, Abnormal hair labora... ORPHA:3242
Ghosal Hematodiaphyseal Dysplasia
Abnormality of tibia morphology, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:1802
Majeed Syndrome
Hepatosplenomegaly, Joint swelling, Failure to thrive OMIM:609628
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Pedal edema, Premature ovarian insufficiency, Increased bone mineral density ORPHA:75325
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Generalized bone demineralization, Delayed epiphyseal ossificatio... OMIM:600785
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Alopecia of scalp, Alopecia OMIM:260910
H Syndrome
Bronchiectasis, Pes planus, Camptodactyly, Histiocytosis, Delayed puberty, Hypertrichosis, Decrea... ORPHA:168569
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Abnormality of the nail, Anteverted nares, Short finger, Kyphosis... OMIM:313420
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Intellectual Developmental Disorder, X-Linked 21
Joint hypermobility, Short nose, Mandibular prognathia, Macroorchidism, Synophrys, Hyperactivity OMIM:300143
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Distal shortening of limbs, Short nose, Rhizomelia, Metaphyseal cupping of metacar... OMIM:300863
Oliver-Mcfarlane Syndrome
Cryptorchidism, Sparse hair, Long eyelashes, Delayed puberty, Distal amyotrophy, Alopecia, Hypopl... OMIM:275400
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathia... ORPHA:1452
Popliteal Cyst
Abnormality of the knee, Joint swelling OMIM:175750
Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Alopecia, Woolly scalp hair, Decreased testicular size, Woolly ha... OMIM:601217
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Hitchhiker thumb, Short finger, I... OMIM:222600
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormality of the vertebral endplates, Recurrent fractures, Osteopetrosis, G... OMIM:166600
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Bulbous nose, Tapered toe, Macrovesicular hepatic steatosis, Long toe, Cardiomegaly, Renal insuff... OMIM:608836
Giant Axonal Neuropathy
Scoliosis, Genu valgum, Abnormality of the pituitary gland, Joint hypermobility, Pili canaliculi,... ORPHA:643
Hyperphosphatasia With Mental Retardation Syndrome 1
Highly arched eyebrow, Short nose, Delayed ossification of carpal bones, Wide nasal bridge, Abnor... OMIM:239300
Congenital Hypothyroidism
Macroglossia, Goiter, Abnormal hair morphology, Abnormality of epiphysis morphology, Hypothyroidi... ORPHA:442
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Pleural effusion, Juvenile rheumatoid arthritis, Splenomegaly, Lymphadenopathy ORPHA:85414
Cryptorchidism, Polydactyly, Scrotal hypoplasia, Natal tooth, Postaxial polydactyly, Sandal gap, ... OMIM:612651
Branchiogenic Deafness Syndrome
Abnormality of the middle ear ossicles, Aplasia/Hypoplasia of the inner ear, Overfolded helix, Co... ORPHA:50815
Tonne-Kalscheuer Syndrome
Cryptorchidism, Broad thumb, Small nail, Micropenis, Pes planus, Wide nasal bridge, Hypospadias, ... OMIM:300978
Parc Syndrome
Alopecia, Absent eyelashes, Absent eyebrow OMIM:600331
12Q14 Microdeletion Syndrome
Scoliosis, Horseshoe kidney, Micrognathia, Renal hypoplasia, Synophrys, Osteopoikilosis, Thick ey... ORPHA:94063
Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to fractures, H... OMIM:224300
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Bazex Syndrome
Joint hypermobility, Sparse hair, Underdeveloped nasal alae, Coarse hair, Trichoepithelioma, Tric... OMIM:301845
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Spinocerebellar Ataxia With Dysmorphism
Scoliosis, Short nose, Coarse hair, Ataxia, Anteverted nares, Abnormal foot morphology OMIM:271270
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Gaucher Disease Type 1
Hematuria, Bone pain, Increased bone mineral density, Pancytopenia, Delayed puberty, Pathologic f... ORPHA:77259
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormal vertebral morphology, Abnormality of epiphysis morphology, Rhizomelia, He... ORPHA:35173
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Talipes equinovarus, Arthrogryposis multiplex congenita, Rocker bottom foot OMIM:616570
Prolidase Deficiency
Generalized hirsutism, Genu valgum, Carious teeth, Low anterior hairline, Palmoplantar keratoderm... ORPHA:742
Popov-Chang syndrome
Scoliosis, Lymphopenia, Long nose, Coarse hair, Small hand, Short foot, Clinodactyly of the 5th f... OMIM:618428
Fragile X Syndrome
Scoliosis, Joint laxity, Pes planus, Mandibular prognathia, Congenital macroorchidism, Hyperactiv... OMIM:300624
Rhizomelic Chondrodysplasia Punctata
Scoliosis, Epiphyseal stippling, Abnormality of epiphysis morphology, Rhizomelia, Limb undergrowt... ORPHA:177
Familial Male-Limited Precocious Puberty
Accelerated skeletal maturation, Long penis, Abnormal hair morphology, Oligospermia, Macroorchidi... ORPHA:3000
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Phalangeal dislocation, Broad first metatarsal, Pes pl... OMIM:251450
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Pes planus, Calcaneovalgus deformity, Joint laxity OMIM:225320
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Enamel hypoplasia, Carious teeth, Metaphyseal irregularity, Bone pain, Bowing ... OMIM:277440
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Abnormality of the kidney, Abnormality of the palmar creases, Mandibular prognathia, Wide nasal b... ORPHA:521445
Fibrodysplasia Ossificans Progressiva
Short hallux, Scoliosis, Small cervical vertebral bodies, Short 1st metacarpal, Ectopic ossificat... OMIM:135100
Bor Syndrome
Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Enlarged cochlear aqueduct, At... ORPHA:107
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hyperlordosis, Cryptorchidism, Increased vertebral height, Hypoplasia of the brainstem, Truncal a... OMIM:616817
2Q32Q33 Microdeletion Syndrome
Prominent nasal bridge, Broad thumb, Sparse hair, Micrognathia, Joint hyperflexibility, Broad hal... ORPHA:251019
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Delayed puberty, Neoplasm of the pancreas, Low posterior hairline... ORPHA:2959
Hepatic Venoocclusive Disease With Immunodeficiency
Microcephaly, Absence of lymph node germinal center OMIM:235550
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Scoliosis, Progressive flexion contractures, Dystonia, Joint laxity, Horizontal eyebrow, Short no... ORPHA:522077
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Hyperlordosis, Delayed eruption of teeth, Large iliac wing, Osteopetrosis, High iliac ... ORPHA:2780
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Macroorchidism, Cardiomegaly, Kyphoscoliosis OMIM:300886
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome
Aplasia/Hypoplasia of the eyebrow, Joint hyperflexibility, Gait disturbance, Ataxia, Sparse or ab... ORPHA:2891
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Hydroureter, Natal tooth, Choanal atresia, Hemivertebrae, M... OMIM:146510
Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Increased bone mineral density, Joint stiffness, Typ... ORPHA:902
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Short neck, Facial hypotonia, Macroorchidism, Ataxia, Spastic gait, Pes cavus, Micrognathia, Shuf... OMIM:300055
Farber Disease
Abnormality of the knee, Short toe, Hydrops fetalis, Joint swelling, Abnormality of the elbow, Sh... ORPHA:333
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Flattening of the talar dome, Hypophosphatemic... OMIM:307800
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Finger clinodactyly, Oligo... ORPHA:8
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Scoliosis, Hand muscle weakness, Triceps weakness, Distal lower limb amyotrophy, Absent Achilles ... ORPHA:99947
Maffucci Syndrome
Neoplasm of the parathyroid gland, Scoliosis, Osteolysis, Goiter, Ovarian neoplasm, Recurrent fra... ORPHA:163634
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Scoliosis, Macroglossia, Carious teeth, Short nose, Abnormal vertebral morphology, Beaking of ver... ORPHA:93
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Enamel hypoplasia, Persistent open anterior fontanelle, Hypoplastic fro... OMIM:119600
Trichodentoosseous Syndrome
Fragile nails, Abnormal hair morphology, Taurodontia, Increased bone mineral density OMIM:190320
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
Frontometaphyseal Dysplasia 1
Scoliosis, Hydroureter, Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexi... OMIM:305620
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Abnormality of the nail, Complete duplication of the 1st metata... OMIM:129540
Pediatric-Onset Graves Disease
Accelerated skeletal maturation, Puberty and gonadal disorders, Craniosynostosis, Increased circu... ORPHA:525731
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Large iliac wing, Bulbous nose, Hydroureter, Bilateral single transverse palmar c... ORPHA:2636
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Deafness-Craniofacial Syndrome
Alopecia, Wide nasal bridge OMIM:125230
Marfan Syndrome
Scoliosis, Joint hypermobility, Pes planus, Camptodactyly, Metatarsus adductus, Narrow foot, Micr... OMIM:154700
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal response to ACTH stimulation test, Cryptorchidism, Scoliosis, Craniosynostosis, Tarsal s... ORPHA:95699
Coffin-Lowry Syndrome
Scoliosis, Delayed closure of the anterior fontanelle, Pes planus, Mandibular prognathia, Coarse ... OMIM:303600
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Bulbous nose, Joint hyperflexibility, Mandibular prognathia, 2-3 toe syndactyly, Recurrent fractu... ORPHA:2324
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Bone pain, Increased bone mineral density, Rickets of the lower limbs, Pseudo-f... ORPHA:289176
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome
Sparse hair, Gait disturbance, Ataxia, Triangular face, Fine hair ORPHA:1174
Maternal Uniparental Disomy Of Chromosome X
Scoliosis, Cubitus valgus, Rocker bottom foot, Camptodactyly of finger, Ambiguous genitalia, Azoo... ORPHA:261519
Trichodysplasia, Sparse hair, Dry hair, Coarse hair, Sparse axillary hair, Slow-growing hair, Spa... OMIM:190360
Erythrokeratodermia Variabilis
Abnormality of the nail, Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Weight los... ORPHA:317
Low back pain, Increased bone mineral density OMIM:166450
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Aplasia/Hypoplasia of the middle ear, Conductive hearing impairment, Microtia OMIM:251800
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Abnormal dental enamel morphology, Scrotal hypoplasia, Bilateral single transverse... ORPHA:3253
Atypical Werner Syndrome
Ovarian neoplasm, Premature graying of hair, Pes planus, Increased bone mineral density, Delayed ... ORPHA:79474
Chondrodysplasia Punctata 2, X-Linked Dominant
Scoliosis, Epiphyseal stippling, Tracheal calcification, Polydactyly, Postaxial polydactyly, Tars... OMIM:302960
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Bone pain, Bowing of the legs, V... ORPHA:89936
Dentin Dysplasia
Abnormal dental enamel morphology, Increased bone mineral density ORPHA:1653
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Short phalanx of finger, Bulbous nose, Micrognathia, Coronal cleft vertebrae, Flexion contracture... OMIM:215150
Gorham-Stout Disease
Abnormality of facial skeleton, Bone pain, Spinal cord compression, Torticollis, Pathologic fract... ORPHA:73
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Hypoplasia of the brainstem, Joint laxity, Hypoplasia of teeth, Slender toe, Delayed p... ORPHA:391408
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Nail pits, Ridged nail, Congenital alopecia totalis ORPHA:169095
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Broad thumb, Sparse hair, Anteverted nares, Hypothyroidism, Alopecia, Broad nasal tip, Brachydactyly OMIM:617763
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Abnormal dental enamel morphology, Macroorchidism, Sparse and thin eyebrow, Bi... ORPHA:139474
Enamel hypoplasia, Cryptorchidism, Carious teeth, Craniosynostosis, Thoracic kyphosis, Ridged nai... ORPHA:33364
Joint swelling, Palmoplantar keratoderma, Abnormality of epiphysis morphology, Abnormal fingernai... ORPHA:2796
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Genu valgum, Short nose, Bifid scrotum, Synophrys, Short distal phalanx of finger, Abnormality of... ORPHA:1295
Arthrogryposis, Distal, Type 2A
Scoliosis, Cryptorchidism, Hypoplasia of the brainstem, Restricted neck movement due to contractu... OMIM:193700
Mixed Connective Tissue Disease
Joint swelling, Xerostomia, Alopecia, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy,... ORPHA:809
Pseudoprogeria Syndrome
Sparse hair, Absent eyelashes, Absent eyebrow, Decreased body weight, Sparse and thin eyebrow, Fa... ORPHA:2985
Alstrom Syndrome
Scoliosis, Accelerated skeletal maturation, Pes planus, Renal insufficiency, Hypergonadotropic hy... OMIM:203800
Moynahan Syndrome
Sparse hair, Microcephaly, Cachexia, Alopecia ORPHA:2574
Neu-Laxova Syndrome 1
Rocker bottom foot, Spina bifida, Cryptorchidism, Toe syndactyly, Bifid uterus, Absent eyelashes,... OMIM:256520
Cronkhite-Canada Syndrome
Hypoplastic toenails, Aplasia/Hypoplasia of the eyebrow, Lymphedema, Cachexia, Dystrophic fingern... ORPHA:2930
Proteus Syndrome
Scoliosis, Carious teeth, Craniosynostosis, Abnormal dental enamel morphology, Ovarian neoplasm, ... ORPHA:744
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Sparse scalp hair, Abnormal eyelash morphology, Sparse body hair, Alopecia universalis ORPHA:1008
Schnitzler Syndrome
Leukocytosis, Bone pain, Increased bone mineral density, Hepatomegaly, Anemia, Splenomegaly, Lymp... ORPHA:37748
Moebius Syndrome
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Short phalanx of finger, Split h... OMIM:157900
Ectodermal Dysplasia 4, Hair/Nail Type
Onycholysis, Absent eyelashes, Absent eyebrow, Brittle hair, Alopecia, Congenital onychodystrophy... OMIM:602032
Fragile X Syndrome
Joint laxity, Pes planus, Mandibular prognathia, Macroorchidism, Sinusitis, Attention deficit hyp... ORPHA:908
Bartsocas-Papas Syndrome
Ambiguous genitalia, Hypoplastic toenails, Toe syndactyly, Short nose, Underdeveloped nasal alae,... ORPHA:1234
Simpson-Golabi-Behmel Syndrome, Type 1
Scoliosis, Cryptorchidism, Accelerated skeletal maturation, Broad thumb, Two carpal ossification ... OMIM:312870
Hemophilia A
Abnormality of the elbow, Joint hemorrhage, Joint swelling, Splenic rupture ORPHA:98878
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, EEG abnormality OMIM:617519
Monosomy 22
Aplasia of the thymus, Joint swelling, Sparse hair, Finger syndactyly, Synophrys, Microcephaly, C... ORPHA:96123
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Abnormality of the vertebral column, Osteopetrosis, Generalized osteosclerosis, ... OMIM:607634
Nail-Patella Syndrome
Scoliosis, Enamel hypoplasia, Abnormality of tibia morphology, Hematuria, Pes planus, Abnormality... ORPHA:2614
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Scoliosis, Vertebral hypoplasia, Epiphyseal stippling, Adrenal hypoplasia, Congenital hip disloca... OMIM:308050
Genitopatellar Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Scrotal hypoplasia, Hypoplastic ischia, Clito... ORPHA:85201
Hemochromatosis Type 4
Joint dislocation, Joint swelling ORPHA:139491
Adult-Onset Still Disease
Joint swelling, Generalized lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Arthritis ORPHA:829
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Equinovarus deformity, Micrognathia, Flexion contracture, Lower li... ORPHA:1143
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Thyrocerebrorenal Syndrome
Renal insufficiency, Thrombocytopenia, Abnormality of the musculature of the limbs, Euthyroid goi... ORPHA:3327
Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Craniofacial hyperos... ORPHA:1782
Raine Syndrome
Enamel hypoplasia, Highly arched eyebrow, Arthrogryposis multiplex congenita, Short neck, Short n... OMIM:259775
Poems Syndrome
Clubbing of fingers, Metaphyseal sclerosis, Sclerosis of hand bone, Thrombocytosis, Primary adren... ORPHA:2905
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia, Familial Focal
Patchy alopecia OMIM:104110
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Candidiasis, Familial, 1
Alopecia OMIM:114580
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:608612
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Camptodactyly, Adducted thumb, Sandal gap, Ulnar deviation of the wrist, Bra... OMIM:618435
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Waddling gait, Femoral bowing, Hip dysplasia, Ulnar... ORPHA:174
Macs Syndrome
Osteoporosis, Joint hypermobility, Cryptorchidism, Scoliosis, Sparse hair, Bronchiectasis, Hyperg... OMIM:613075
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis ORPHA:1014
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Low anterior hairline, Hirsutism, Abnormally large globe, Synophrys OMIM:300004
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Abnormality of the nail, Taurodontia, Finger clinodactyly, Abnormal hair quan... ORPHA:3352
Hip dysplasia, Scoliosis, Macroglossia, Synostosis of joints, Craniofacial hyperostosis, Hypoplas... ORPHA:61
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, Abnormali... ORPHA:2616
Hemochromatosis, Type 1
Osteoporosis, Cirrhosis, Azoospermia, Elevated hepatic transaminase, Pleural effusion, Hepatocell... OMIM:235200
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe OMIM:110150
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Hypomelanosis Of Ito
Hand polydactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Alopecia, Macrocephaly, M... OMIM:300337
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Short neck, Micrognathia OMIM:616038
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small hypothenar eminence, Delayed puberty, Triphalangeal thumb, Osteoporosis, Ap... ORPHA:2232
Keratoderma Hereditarium Mutilans
Osteolysis, Autoamputation of digits, Abnormality of the nail, Honeycomb palmoplantar hyperkerato... ORPHA:494
Marie Unna Hereditary Hypotrichosis
Coarse hair, Sparse scalp hair, Sparse or absent eyelashes, Alopecia, Aplasia/Hypoplasia of the e... ORPHA:444
Lichtenstein Syndrome
Osteoporosis, Enamel hypoplasia, Carious teeth, Anteverted nares, Hirsutism, Neutropenia, Synophr... OMIM:246550
Scoliosis, Joint hypermobility, Abnormality of long bone morphology, Craniosynostosis, Hip sublux... ORPHA:356961
Oculodentodigital Dysplasia
Neurogenic bladder, Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, ... ORPHA:2710
L-Ferritin Deficiency
Alopecia OMIM:615604
Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation
Camptodactyly of finger, Cryptorchidism, Decreased testicular size, Clinodactyly, Patchy alopecia... ORPHA:85279
Myopia 27
Increased axial length of the globe OMIM:618827
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Pseudohypopara... ORPHA:79443
Blomstrand Lethal Chondrodysplasia
Accelerated skeletal maturation, Platyspondyly, Short nose, Anteverted nares, Synostosis of joint... ORPHA:50945
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Talipes equinovarus, Ambiguous genitalia, Absent tibia, Enlarged kidney, Micropenis, P... OMIM:613091
Gapo Syndrome
Delayed eruption of teeth, Anteverted nares, Oligospermia, Abnormal form of the vertebral bodies,... ORPHA:2067
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Sparse hair, Palmoplantar keratoder... ORPHA:1071
Ascher Syndrome
Hypothyroidism, Goiter, Wide nose, Deviation of finger ORPHA:1253
Mandibuloacral Dysplasia
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:2457
Hair Defect With Photosensitivity And Mental Retardation
Sparse hair, Coarse hair, Sparse and thin eyebrow, Brittle hair, Sparse eyelashes OMIM:234030
Pendred Syndrome
Cochlear malformation, Vestibular dysfunction, Congenital sensorineural hearing impairment OMIM:274600
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Mandibular prognathia, Extramedullary hematopoiesis, Recurrent fractu... OMIM:259710
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Hirsutism, Duplicated colle... OMIM:301056
Wormian bones, Persistent open anterior fontanelle, Ridged nail, Bone pain, Short distal phalanx ... ORPHA:763
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Short fifth metatarsal, Short metatarsal, Pseudohypoparathyroidism, Low urinar... ORPHA:79444
Branchiootic Syndrome 1
Hypoplasia of the cochlea, Cochlear malformation, Low-set ears, Cupped ear, Sensorineural hearing... OMIM:602588
Myopia 23, Autosomal Recessive
Increased axial length of the globe OMIM:615431
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Aminoaciduria, Hepatome... ORPHA:417
Spondyloepimetaphyseal Dysplasia, Shohat Type
Vertebral hypoplasia, Platyspondyly, Joint laxity, Metaphyseal irregularity, Central vertebral hy... OMIM:602557
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Micrognathia, Decreased calvarial ossifi... ORPHA:313855
Satoyoshi Syndrome
Abnormality of the knee, Hyperlordosis, Abnormality of the ovary, Abnormality of femur morphology... ORPHA:3130
Cerebellar-Facial-Dental Syndrome
Scoliosis, Cryptorchidism, Hypoplasia of the brainstem, Sparse eyebrow, Abnormal midbrain morphol... ORPHA:444072
Anauxetic Dysplasia 3
Joint hypermobility, Hip subluxation, Broad eyebrow, Spinal cord compression, Femoral bowing, Dep... OMIM:618853
Functioning Gonadotropic Adenoma
Abnormality of secondary sexual hair, Pituitary hypothyroidism, Delayed puberty, Osteoporosis, As... ORPHA:91348
Koolen-De Vries Syndrome
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Bulbous nose, Underdeveloped nasal ... ORPHA:96169
Charcot-Marie-Tooth Disease, Type 4D
Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduction velocity OMIM:601455
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic atrophy OMIM:125250
Mosaic Trisomy 1
Hepatic agenesis, Long toe, Congenital diaphragmatic hernia, Complete duplication of thumb phalan... ORPHA:1692
Verloove Vanhorick-Brubakk Syndrome
Cryptorchidism, Tarsal synostosis, Finger syndactyly, Abnormal form of the vertebral bodies, Limb... ORPHA:3429
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Brainstem dysplasia, Talipes calcaneovalgus, Camptodactyly, Adducted thumb, ... ORPHA:444051
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Craniosynostosis, Metaphyseal chondrodysplasia, Horseshoe kidney, Small nail, Abs... ORPHA:166035
Dyskeratosis Congenita
Scoliosis, Carious teeth, Premature graying of hair, Anemia, Neoplasm of the pancreas, Aplastic/h... ORPHA:1775
Craniometadiaphyseal Dysplasia
Osteopenia, Sclerosis of skull base, Abnormally large globe OMIM:269300
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Autosomal Dominant Progressive External Ophthalmoplegia
EMG: myopathic abnormalities, Hypomimic face, Nocturia, Shoulder girdle muscle weakness, Limb mus... ORPHA:254892
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Sparse eyebrow, Congenital hip dislocation, Hypoplasia of teeth, Premature grayin... OMIM:268400
Branchiogenic-Deafness Syndrome
Mixed hearing impairment, Abnormality of the middle ear ossicles, Atresia of the external auditor... OMIM:609166
Multiple Endocrine Neoplasia, Type Iib
Parathyroid hyperplasia, Scoliosis, Hyperlordosis, Joint laxity, Nodular goiter, Pheochromocytoma... OMIM:162300
Aromatase Deficiency
Osteoporosis, Genu valgum, Cryptorchidism, Generalized hirsutism, Hypergonadotropic hypogonadism,... ORPHA:91
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Maternal diabetes, Abnormal vertebral morphology, Laryngotracheomal... ORPHA:93346
Cerebellofaciodental Syndrome
Scoliosis, Sparse hair, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngea... OMIM:616202
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Flynn-Aird Syndrome
Scoliosis, Carious teeth, Primary adrenal insufficiency, Bone cyst, Kyphosis, Ataxia, Abnormality... ORPHA:2047
Bresek Syndrome
Scoliosis, Cryptorchidism, Postaxial hand polydactyly, Hypoplasia of the bladder, Renal hypoplasi... ORPHA:85284
Sanjad-Sakati Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Recurrent respiratory infections, Small hand, ... ORPHA:2323
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Thyrocerebroretinal Syndrome
Goiter, Ataxia, Thrombocytopenia, Skeletal muscle atrophy, Nephritis OMIM:274240
Incontinentia Pigmenti
Delayed eruption of teeth, Nail pits, Sparse hair, Breast hypoplasia, Leukocytosis, Ridged nail, ... OMIM:308300
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Acro-Renal-Mandibular Syndrome
Scoliosis, Split hand, Hemivertebrae, Bicornuate uterus, Congenital diaphragmatic hernia, Renal h... ORPHA:958
Van Maldergem Syndrome 2
Scoliosis, Cryptorchidism, Joint laxity, Short clavicles, Micrognathia, Micropenis, Hypoplasia of... OMIM:615546
Cerebrofaciothoracic Dysplasia
Scoliosis, Low posterior hairline, Short nose, Coarse hair, Synophrys, Hemivertebrae, Thick eyebr... ORPHA:1394
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hand polydactyly, Abnormality of the vertebral column, Abnormal vertebral morph... OMIM:314390
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, Short l... OMIM:614091
Cohen Syndrome
Scoliosis, Cryptorchidism, Neutropenia, Sandal gap, Slender toe, Delayed puberty, Micrognathia, H... ORPHA:193
Smith-Magenis Syndrome
Hearing impairment, Morphological abnormality of the middle ear, EEG abnormality, Abnormality of ... OMIM:182290
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Short nose, Abnormally large globe, Wide nasal bridge OMIM:300749
Acrocephalopolydactylous Dysplasia
Extrapulmonary sequestrum, Postaxial hand polydactyly, Craniosynostosis, Short nose, Enlarged kid... OMIM:200995
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Cubitus valgus, Genu valgum, Cryptorchidism, Joint hyperflexibility, Mandibular prognathia, Wide ... ORPHA:1778
Erdheim-Chester Disease
Dysuria, Renal insufficiency, Osteolysis, Joint swelling, Abnormality of epiphysis morphology, Pu... ORPHA:35687
Ambiguous genitalia, Anomalous pulmonary venous return, Renal agenesis, Short nose, Talipes, Oste... ORPHA:35107
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Recurrent res... OMIM:619365
Pili Torti-Onychodysplasia Syndrome
Trichodysplasia, Congenital onychodystrophy, Absent eyelashes, Palmoplantar keratoderma, Absent e... ORPHA:2890
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Horseshoe kidney, Abnormality of finger, Hyperphosphaturia, Hypophos... OMIM:163200
Intellectual Disability, Buenos-Aires Type
Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Hyperconvex thumb nails, Wid... ORPHA:3079
Adenocarcinoma Of The Esophagus
Clinodactyly of the 5th toe, Lymphadenopathy, Obesity ORPHA:99976
Cowden Syndrome
Scoliosis, Macroglossia, Abnormality of the uterus, Goiter, Palmoplantar keratoderma, Abnormal pe... ORPHA:201
Clouston Syndrome
Small nail, Onycholysis, Sparse eyelashes, Absent pubic hair, Absent axillary hair, Slow-growing ... OMIM:129500
Cowden Syndrome 6
Scoliosis, Hydrocele testis, Ovarian cyst, Goiter, Palmoplantar hyperkeratosis, Hypoplasia of the... OMIM:615109
Satoyoshi Syndrome
Genu valgum, Short metatarsal, Skeletal muscle hypertrophy, Pes planus, Hypoplasia of the uterus,... OMIM:600705
Increased bone mineral density OMIM:265880
Cowden Syndrome 5
Scoliosis, Hydrocele testis, Ovarian cyst, Goiter, Hypoplasia of the maxilla, Thyroiditis, Hypoth... OMIM:615108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Onycholysis, Abnormal abdomen morphology, Hyperactivity OMIM:275000
Neurogenic bladder, Genu valgum, Cryptorchidism, Camptodactyly of finger, Short neck, Elevated he... ORPHA:263487
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Sparse hair, Synostosis of carpal bones, Finger syn... ORPHA:1005
Antley-Bixler Syndrome
Camptodactyly of finger, Abnormal renal morphology, Craniosynostosis, Short nose, Anteverted nare... ORPHA:83
Zimmermann-Laband Syndrome
Joint hypermobility, Bulbous nose, Pes planus, Overtubulated long bones, Micrognathia, Short neck... ORPHA:3473
Schinzel-Giedion Midface Retraction Syndrome
Increased density of long bones, Wormian bones, Hydroureter, Scrotal hypoplasia, Short distal pha... OMIM:269150
Melnick-Needles Syndrome
Scoliosis, Delayed eruption of teeth, Anisospondyly, Craniofacial hyperostosis, Joint hyperflexib... ORPHA:2484
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperostosis, Periostosis OMIM:614441
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Short phalanx of finger, Underdeveloped nasal alae, Absent ey... OMIM:263650
Cowden Syndrome 1
Scoliosis, Hydrocele testis, Ovarian cyst, Goiter, Palmoplantar hyperkeratosis, Hypoplasia of the... OMIM:158350
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Hyperostosis OMIM:604922
Trichothiodystrophy 2, Photosensitive
Brittle hair, Coarse hair, Tiger tail banding OMIM:616390
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Broad thumb, Sandal gap, Metatarsus adductus, Spina ... ORPHA:235
Multicentric Osteolysis, Nodulosis, And Arthropathy