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Gene: Ids MGI:96417

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

iduronate 2-sulfatase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Human diseases associated with Ids (3 diseases)
Human diseases predicted to be associated with Ids (1628 diseases)

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

Disease	Matching phenotypes	Source
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenome...	OMIM:309900
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Spinal c...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Spinal c...	ORPHA:217093

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

Disease	Matching phenotypes	Source
Auditory Neuropathy, Autosomal Dominant 1	Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn...	OMIM:609129
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex	OMIM:601071
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Chondroitin...	OMIM:253010
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Mueller-Weiss Syndrome	Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone...	ORPHA:566943
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Mucolipidosis Ii Alpha/Beta	Osteopenia, Brittle hair, Micrognathia, Cardiomegaly, Metaphyseal widening, Sparse hair, Hepatome...	OMIM:252500
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Grayish enamel, C...	ORPHA:582
Deafness, Autosomal Recessive 104	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit...	OMIM:616515
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Mucopolysaccharidosis, Type Vii	Accelerated skeletal maturation, Short neck, Flexion contracture, Coarse hair, Narrow greater sci...	OMIM:253220
Trisomy 20P	Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b...	ORPHA:261318
Cartilage-Hair Hypoplasia	Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Abnormal f...	ORPHA:175
Oculoskeletodental Syndrome	Hepatomegaly, Renal agenesis, Cryptorchidism, Splenomegaly, Delayed skeletal maturation, Elbow fl...	OMIM:618440
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Hepatomegaly, Hypoplasia of the femoral he...	OMIM:607014
Osteochondritis Dissecans	Abnormality of the knee, Abnormal tibia morphology, Abnormal joint morphology, Joint swelling, Ga...	ORPHA:2764
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Bone pain, Abnormal pubic ...	ORPHA:83468
Progressive Pseudorheumatoid Dysplasia	Waddling gait, Enlarged epiphyses, Enlarged interphalangeal joints, Arthropathy, Camptodactyly of...	OMIM:208230
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Incr...	ORPHA:457395
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Mucopolysaccharidosis-Plus Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Synophrys, Low anterior hairline, Leukopen...	OMIM:617303
Hurler-Scheie Syndrome	Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Thenar ...	OMIM:607015
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Synophrys, Recurrent upper respiratory...	OMIM:252920
Mucopolysaccharidosis Type 1	Joint dislocation, Recurrent respiratory infections, Sinusitis, Abnormality of the tonsils, Joint...	ORPHA:579
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Fe...	OMIM:223800
X-Linked Dominant Chondrodysplasia Punctata	Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st...	ORPHA:35173
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, ...	OMIM:252930
Farber Lipogranulomatosis	Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ...	OMIM:228000
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Short neck, Heparan sulfate excretion in urine, Splenome...	OMIM:309900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, External genital hypoplasia, Micrognathia, Short neck, Generalized joint laxity, Tibi...	ORPHA:251028
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Joint stiffness, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recur...	OMIM:252900
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon...	OMIM:242900
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Splenomegal...	ORPHA:583
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m...	ORPHA:1159
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m...	ORPHA:584
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micrognathia, Micromelia, Symphalangism affecting...	ORPHA:628
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,...	OMIM:601680
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Avascu...	OMIM:253200
Panner Disease	Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar...	ORPHA:97336
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b...	OMIM:252940
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Camptodactyly of finger, Abnormality of the tonsi...	ORPHA:93473
Isolated Osteopoikilosis	Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ...	ORPHA:166119
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, B...	ORPHA:955
Hall-Riggs Syndrome	Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Join...	ORPHA:2107
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies,...	ORPHA:581
Chondrodysplasia Calcificans Metaphysealis	Metaphyseal dysplasia, Mucopolysacchariduria, Metaphyseal chondrodysplasia	OMIM:215050
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic oss...	ORPHA:337
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Accelerated skel...	OMIM:277590
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Hypospadias, Bilateral single transverse palmar creases, Ab...	ORPHA:1786
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Oligosacchariduria, Thoracic kyphosis, Abnormal bone ossification, Abno...	ORPHA:163649
Bowen-Conradi Syndrome	Rocker bottom foot, Camptodactyly of finger, Micrognathia, Joint stiffness, Cryptorchidism, Abnor...	ORPHA:1270
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla...	OMIM:613573
Silver-Russell Syndrome	Abnormality of male external genitalia, Decreased muscle mass, Sandal gap, Hypospadias, Micrognat...	ORPHA:813
Osteochondrosis Of The Tarsal Bone	Antalgic gait, Foot pain, Pedal edema, Tarsal sclerosis, Arthritis, Tarsal stippling, Ankle pain,...	ORPHA:563991
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Joint stiffness, Splenomegaly, Coarse hair, Mucopolysaccharid...	ORPHA:585
Smith-Mccort Dysplasia 2	Mandibular prognathia, Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femor...	OMIM:615222
Wilson Disease	Abnormality of the hand, Aggressive behavior, Splenomegaly, Hypersexuality, Increased body weight...	ORPHA:905
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Coarse hair, Join...	ORPHA:1883
Mccune-Albright Syndrome	Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Hype...	ORPHA:562
Spinocerebellar Ataxia-Dysmorphism Syndrome	Genu recurvatum, Reduced bone mineral density, Slender long bone, Coarse hair, Joint hyperflexibi...	ORPHA:1185
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Kyphoscoliosis, Wide anterior fontanel, Delayed skeletal maturat...	OMIM:608545
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited ...	OMIM:615065
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Increased bone mineral density, Facial palsy, 2-3 f...	ORPHA:3152
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ...	ORPHA:2750
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, Hypoplasia of the pons, Calc...	OMIM:612513
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General...	ORPHA:2790
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Osteopenia, Joint laxity, Brittle hair, Pes planus, Delayed closure of...	OMIM:607812
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocat...	ORPHA:536532
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Aplasi...	ORPHA:2204
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Neurogenic bladder, Tethered cord, Micrognathia, Short n...	OMIM:130720
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Symmetric polyarthritis, Abnormal limb bone morphology, Synovitis, Premature epimetaphyseal fusio...	ORPHA:85435
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Facial hypotonia, Ataxia, Kyphoscoliosis, Micrognathia, Short neck, Flexion contracture, Small ha...	OMIM:300055
Weaver Syndrome	Hypoplasia of penis, Micrognathia, Hypoplastic toenails, Accelerated skeletal maturation, Deep-se...	ORPHA:3447
Flynn-Aird Syndrome	Increased bone mineral density, Alopecia, Ataxia, Kyphoscoliosis, Joint stiffness, Carious teeth,...	OMIM:136300
Opticocochleodentate Degeneration	Optic atrophy, Cochlear degeneration, Hearing impairment	OMIM:258700
Osteosclerotic Metaphyseal Dysplasia	Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclero...	OMIM:615198
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyporeflexia of lower limbs, Broad-based gait, Hyperlordosis, Calcaneovalgus deformity, Distal am...	OMIM:162370
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera...	ORPHA:2722
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Tenosynovial Giant Cell Tumor	Abnormality of the knee, Lymphedema, Polyarticular arthropathy, Abnormality of the elbow, Abnorma...	ORPHA:66627
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg...	ORPHA:3078
Camurati-Engelmann Disease, Type 2	Osteopenia, Hyperostosis, Waddling gait	OMIM:606631
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Acrootoocular Syndrome	Decreased response to growth hormone stimulation test, Abnormal finger flexion crease, Micrognath...	ORPHA:2980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, External genital hypoplasia, Single transverse palmar crease, Micrognathia...	ORPHA:96334
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Clark-Baraitser syndrome	Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Shor...	OMIM:300602
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint st...	ORPHA:2604
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Hip contracture, Micrognathia, Metatarsus adductus, Short neck, Calcaneovalgus deformity, Elbow f...	OMIM:616266
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac...	ORPHA:90650
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of t...	ORPHA:198
Chromosome 3Q29 Duplication Syndrome	Short nose, Wide nasal bridge, Low posterior hairline, Abnormally large globe	OMIM:611936
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ...	ORPHA:189
Cutis Laxa, Autosomal Recessive, Type Iia	Pes planus, Congenital hip dislocation, Brittle hair, Abnormality of hair texture, Carious teeth,...	OMIM:219200
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Mucopolysaccharidosis, Type X	Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine, Genu valgum, Wide nasal brid...	OMIM:619698
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Congenital diaphragmatic hernia, Tapered finger, Short neck, Recurrent upp...	ORPHA:284180
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Leukopenia, Thoracic kyphosis, Lumbar hyperlordosis, Hepatosplen...	ORPHA:505248
Deafness, Autosomal Dominant 9	Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment...	OMIM:601369
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, Bilateral coxa valga, Clinodactyly of the 5th finger, Thoracic hypertrich...	OMIM:618268
Chops Syndrome	Curly hair, Thick hair, Cryptorchidism, Synophrys, Splenomegaly, Vesicoureteral reflux, Anomalous...	OMIM:616368
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to...	ORPHA:763
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypoplasia of the...	OMIM:604292
Bullous Dystrophy, Hereditary Macular Type	Alopecia totalis, Microcephaly, Tapered finger, Short finger, Abnormality of the nail	OMIM:302000
X-Linked Intellectual Disability, Hedera Type	Pes planus, Inability to walk, Calcaneovalgus deformity, Unsteady gait, Dysmetria, Absent Achille...	ORPHA:93952
Cranio-Osteoarthropathy	Abnormality of the knee, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation o...	ORPHA:1525
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, De...	ORPHA:95716
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Curly hai...	ORPHA:85184
Fragile X Syndrome	Macroorchidism, postpubertal, Mandibular prognathia, Joint laxity, Pes planus, Folate-dependent f...	OMIM:300624
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Femoral bowing, Reduced bone mineral density, Enuresis nocturna, General...	OMIM:614856
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Single trans...	OMIM:611890
Buschke-Ollendorff Syndrome	Lower limb asymmetry, Joint stiffness, Osteopoikilosis, Flexion contracture, Scoliosis	OMIM:166700
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux ...	ORPHA:1520
Intermittent Hydrarthrosis	Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis	ORPHA:329967
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Adrenomyodystrophy	Delayed skeletal maturation, Primary adrenal insufficiency, Megacystis, Reduced bone mineral dens...	ORPHA:977
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Joint hyperflex...	ORPHA:776
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Ataxia, Micrognathia, Short neck, Flexion contracture, Calcaneovalgus deformity, ...	ORPHA:562528
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th...	ORPHA:163966
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Congenital foot contractures, Ankle clonus, Tip-toe gait, Scoliosis, Atrophy/Dege...	ORPHA:565624
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal c...	ORPHA:3416
Multiple Sulfatase Deficiency	Hepatomegaly, Broad hallux, Ataxia, Splenomegaly, Hypoplastic vertebral bodies, Mucopolysaccharid...	OMIM:272200
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Postaxial hand polydactyly, Abnormality of the anterior pituitary, Pulmon...	ORPHA:75389
Osteosarcoma	Abnormal femoral metaphysis morphology, Weight loss, Joint swelling, Abnormal tibial metaphysis m...	ORPHA:668
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Calvarial Hyperostosis	Calvarial hyperostosis	OMIM:302030
Melorheostosis	Hyperostosis, Increased bone mineral density, Ectopic ossification in muscle tissue	ORPHA:2485
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Joint dislocation, Thick eyebrow, Pes planus, Sandal gap, Recurrent shoulder dislo...	ORPHA:230851
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Del...	OMIM:612921
Megalencephaly	Short neck, Delayed skeletal maturation, Long penis, Wide nasal bridge, Genu valgum, Macroorchidism	ORPHA:2477
Nicolaides-Baraitser Syndrome	Short palm, Joint dislocation, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abno...	ORPHA:3051
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Kyphosis, Abnormality of the gallbladder, Muco...	ORPHA:349
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Arthrogryposis, Distal, Type 1C	Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Rocker bottom foot, Short...	OMIM:619110
Greenberg Dysplasia	Micromelia, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Patchy variatio...	OMIM:215140
Three M Syndrome 3	Short neck, Hyperlordosis, Increased vertebral height, Slender long bone, Hip dysplasia, Clinodac...	OMIM:614205
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Diabetes mellitus, Spinal cord compression, Myelopathy, Abnormali...	OMIM:602475
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Nephrogenic rest, Micrognathia, Short neck, Nep...	OMIM:608022
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Spinal c...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Camptodactyly of finger, Heparan sulfate excretion in urine, Splenomegaly, Spinal c...	ORPHA:217093
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Alopecia, Rhizomelia, Kyphoscoliosis, Mic...	OMIM:215100
Bangstad Syndrome	Progressive cerebellar ataxia, Abnormally large globe	OMIM:210740
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Spinal ...	ORPHA:319487
Branchiootic Syndrome	Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte...	ORPHA:52429
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa...	OMIM:617294
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Fetal Hydantoin Syndrome	Bifid scrotum, Hypoplastic fingernail, Cryptorchidism, Low posterior hairline, Coarse hair, Triph...	ORPHA:1912
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Abnormal finger morphology, Sparse or absent eyelashes, Coarse...	ORPHA:113
Bowen-Conradi Syndrome	Clinodactyly of the 5th finger, Abnormal joint morphology, Rocker bottom foot, Micrognathia	OMIM:211180
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Femur fracture, Facial palsy, Cranio...	OMIM:259700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Premature thelarche, Abnormal hand morphology, Sclerotic cranial sutures...	ORPHA:371428
Macrocephaly/Autism Syndrome	Joint laxity, Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Coarse hair, Short ...	OMIM:605309
Noonan Syndrome	Abnormal hair quantity, Hepatomegaly, Hypogonadotropic hypogonadism, Micrognathia, Cryptorchidism...	ORPHA:648
Digitotalar Dysmorphism	Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger	OMIM:126050
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormal metacarpophalangeal joint morphology, Ankle swelling, Abnormal metatarsal morphology, Ab...	ORPHA:85408
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Po...	ORPHA:50814
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Short neck, Low anterior hairline, Coxa vara, ...	ORPHA:800
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis...	OMIM:122860
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Generalized hypoplasia of dental enamel, Alopecia, Thoracic kyphoscoliosis, Carious teeth, Flexio...	OMIM:203550
Rheumatoid Arthritis	Swan neck-like deformities of the fingers, Weight loss, Joint swelling, Polyarticular arthritis, ...	OMIM:180300
Albers-Schönberg Osteopetrosis	Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Facial palsy, Recurrent fracture...	ORPHA:53
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Alopecia, Ataxia, Small for gestational age, Microcephaly, Long eyelashes, Sparse hair	ORPHA:3363
Sinding-Larsen-Johansson Disease	Joint swelling, Osteochondrosis, Limitation of knee mobility	ORPHA:97337
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Kyphosis, ...	OMIM:618393
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ...	ORPHA:210110
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Overfolded helix, Abnormal antihelix morphology, Large earlobe, Microtia, Atresia ...	ORPHA:79113
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Delayed skeletal maturation, Split h...	ORPHA:2850
Hypocalcemic Vitamin D-Resistant Rickets	Joint dislocation, Hyperparathyroidism, Alopecia, Osteomalacia, Recurrent fractures, Bone cyst, G...	ORPHA:93160
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Facial hypotonia, ...	OMIM:615273
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Fe...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Decreased response to growth hormone stimulation test, Fe...	ORPHA:363958
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ...	ORPHA:226313
Kerion Celsi	Alopecia, Lymphadenopathy	ORPHA:499
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Alopecia of scalp, Abnormally large globe	OMIM:210700
Occipital Horn Syndrome	Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostos...	OMIM:304150
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Coa...	ORPHA:83617
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Flared iliac wing, Short long bon...	ORPHA:79255
Thumb Deformity And Alopecia	Short thumb, Alopecia	OMIM:188150
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Alopecia, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Fing...	ORPHA:2251
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Kyphoscoliosis, Cardiomegaly, Abnormal thumb morphology, Inability to walk...	ORPHA:324410
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Macrogloss...	ORPHA:1423
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Micrognathia, Hypoplasia of the abdominal wall musculature,...	OMIM:612289
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism, Limited elbow extension, Tapered finger	OMIM:300706
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Chondrocalcinosis	ORPHA:1416
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression...	OMIM:222600
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim...	OMIM:274300
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Postaxial hand polydactyly, Multinodular goiter, Triphalangeal thum...	ORPHA:2091
Scheie Syndrome	Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Mucopolysacchariduria	ORPHA:93474
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Decreased muscle mass, Congenital hip dislocation, Thick hair, Delayed closure of the anterior fo...	ORPHA:357074
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Joint hypermobility, Delayed skeletal maturation, Fine hair, Clinodactyly, Fragile nails	ORPHA:500166
Werner Syndrome	Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Renal...	ORPHA:902
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Recurrent respiratory infections, H...	ORPHA:209905
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Gorlin-Chaudhry-Moss Syndrome	Hypoplasia of the maxilla, Abnormal foot morphology, Low anterior hairline, Coarse hair, Abnormal...	ORPHA:2095
Bent Bone Dysplasia Syndrome 1	Decreased calvarial ossification, Hirsutism, Coronal craniosynostosis, Abnormally large globe	OMIM:614592
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Broad jaw, Increased bone mineral density, Facial palsy, Craniosynostosis	ORPHA:178377
Kaposiform Lymphangiomatosis	Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies, Abnor...	ORPHA:464329
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Spondyloepiphyseal Dysplasia Congenita	Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, ...	OMIM:183900
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Broad-based gait, Synophrys, 2-3 toe syndactyly, Short foot, Coarse hair	OMIM:616351
Majeed Syndrome	Hepatomegaly, Increased bone mineral density, Osteomyelitis, Glomerulopathy, Proteinuria, Congeni...	ORPHA:77297
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Joint swelling, Pleural effusion, Juvenile rheumatoid arthritis	ORPHA:85414
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Co...	OMIM:118650
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, External genital hypoplasia, Epispadias, Abnormal finger morphology, Symph...	ORPHA:2658
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph...	ORPHA:2976
Giant Axonal Neuropathy	Facial palsy, Abnormal hand morphology, Abnormal pituitary gland morphology, Unsteady gait, Genu ...	ORPHA:643
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Alopec...	OMIM:600785
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Fetal asci...	OMIM:215045
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Enlarged joints, Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, Cutaneous synda...	ORPHA:166024
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Ankle flexion contracture	OMIM:619985
Squamous Cell Carcinoma Of The Esophagus	Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99977
L-Ferritin Deficiency	Restless legs, Alopecia	OMIM:615604
Arthrogryposis, Distal, Type 1B	Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac...	OMIM:614335
Distal Arthrogryposis Type 1	Rocker bottom foot, Camptodactyly of finger, Joint stiffness, Talipes, Ulnar deviation of finger,...	ORPHA:1146
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Diffuse hepatic steatosis, Equinovarus deformity, Equinus calcaneus, Rhabdomy...	ORPHA:746
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Alg9-Cdg	Micrognathia, Short neck, Abnormal lung lobation, Narrow greater sciatic notch, Abnormal bone oss...	ORPHA:79328
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Flexion contracture, Osteolysis involving bones of the upper limbs, Hypopla...	ORPHA:88630
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Functioning Gonadotropic Adenoma	Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad...	ORPHA:91348
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Recurrent fractures, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morpholog...	ORPHA:97290
Mantle Cell Lymphoma	Splenomegaly, Weight loss, Anorexia, Lymphadenopathy	ORPHA:52416
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hand muscle weakness, Quadriceps muscle weakness, Flexion contracture, Increased laxity of ankles...	ORPHA:99947
Farber Disease	Abnormality of the knee, Failure to thrive, Abnormality of the hand, Short toe, Abnormality of th...	ORPHA:333
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
H Syndrome	Microcytic anemia, Micropenis, Alopecia, Abnormality of the kidney, Recurrent pharyngitis, Delaye...	ORPHA:168569
Majeed Syndrome	Joint swelling, Failure to thrive, Hepatosplenomegaly	OMIM:609628
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Popliteal Cyst	Abnormality of the knee, Joint swelling	OMIM:175750
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Persistent open anterior fontanelle, Ab...	ORPHA:1798
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido...	ORPHA:1974
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Synophrys, Macroorchidism, Short nose, Joint hypermobility	OMIM:300143
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin...	ORPHA:90674
Gaucher Disease Type 1	Osteopenia, Osteoarthritis, Bone pain, Pedal edema, Leukopenia, Avascular necrosis, Biliary tract...	ORPHA:77259
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Abnormally large globe, Wide nasal bridge, Athetosis, Delayed ossification...	OMIM:239300
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Short metatarsal, Cone-shaped epiphyses of the proximal...	OMIM:190350
Osteopetrosis, Autosomal Dominant 2	Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, General...	OMIM:166600
Hepatic Venoocclusive Disease With Immunodeficiency	Microcephaly, Absence of lymph node germinal center	OMIM:235550
Oliver-Mcfarlane Syndrome	Alopecia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormon...	OMIM:275400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing ha...	ORPHA:3082
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe	OMIM:110150
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Vitamin D-Dependent Rickets, Type 2A	Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tibial bowing, El...	OMIM:277440
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Alopecia, Diabetes mellitus, Abnormal hairshaft m...	ORPHA:3242
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Cronkhite-Canada Syndrome	Alopecia, Abnormal fingernail morphology, Cachexia, Tapered finger, Hypoplastic toenails, Lymphed...	ORPHA:2930
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Microcephaly, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Macroc...	ORPHA:208441
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Abnormally large globe	OMIM:618504
Bor Syndrome	Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th...	ORPHA:107
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Accelerated skeletal maturation, Precocious puberty, Abnormal hair morphology, ...	ORPHA:3000
Schaaf-Yang Syndrome	Mandibular prognathia, Rocker bottom foot, Tapered finger, Cryptorchidism, Inability to walk, Fle...	OMIM:615547
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Pe...	ORPHA:93
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Maffucci Syndrome	Neoplasm of the adrenal cortex, Recurrent fractures, Neoplasm of the parathyroid gland, Pituitary...	ORPHA:163634
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Pycnodysostosis	Ridged nail, Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruptio...	OMIM:265800
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Osteomesopyknosis	Low back pain, Increased bone mineral density, Infertility	OMIM:166450
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Limited pronati...	ORPHA:163654
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Ataxia, Abnormality of hair texture, Joint hyperflexibility, Sparse or absent eyelashes, Gait dis...	ORPHA:2891
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Pes planus, Calcaneovalgus deformity, Genu recurvatum	OMIM:225320
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Splenomegaly, Weight loss, Joint swel...	ORPHA:465508
Rhizomelic Chondrodysplasia Punctata	Alopecia, Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morp...	ORPHA:177
Tonne-Kalscheuer Syndrome	Pes planus, Broad-based gait, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Concave...	OMIM:300978
Myopia 23, Autosomal Recessive	Increased axial length of the globe	OMIM:615431
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulatin...	ORPHA:90673
Meckel Syndrome, Type 8	Short neck, Short nose, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia, Ambiguous ...	OMIM:613885
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Abnormal...	ORPHA:8
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Platys...	OMIM:300863
Trichothiodystrophy	Osteopenia, Ridged nail, Joint dislocation, Multiple joint contractures, Brittle hair, Gait ataxi...	ORPHA:33364
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, Cryptorchidism, Delayed skel...	OMIM:616817
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Rocker bottom foot, Micrognathia, Short neck, Cryptorchidism, Hand clenching, Arthrogryposis mult...	OMIM:618766
12Q14 Microdeletion Syndrome	Skeletal muscle atrophy, Diabetes mellitus, Micrognathia, Ectopic kidney, Abnormality of the sple...	ORPHA:94063
Fragile X Syndrome	Mandibular prognathia, Joint laxity, Pes planus, Sinusitis, Folate-dependent fragile site at Xq28...	ORPHA:908
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Abnormal hair whorl, Fasting hyper...	ORPHA:79474
Trichodentoosseous Syndrome	Abnormal hair morphology, Increased bone mineral density, Taurodontia, Fragile nails	OMIM:190320
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Micrognathia, Microcytic anemia, T l...	ORPHA:2959
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Carious teeth, Crypt...	OMIM:214150
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote...	ORPHA:320401
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o...	OMIM:119600
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Facial palsy, Micrognathia, Hyperlordo...	ORPHA:2780
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the ey...	ORPHA:522077
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Abnormality of the kidney, Tapered finger, Long f...	ORPHA:521445
Monosomy 22	Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Microcephaly, Synophry...	ORPHA:96123
Pachydermoperiostosis	Abnormal hair quantity, Abnormal fingernail morphology, Abnormal hair pattern, Edema, Splenomegal...	ORPHA:2796
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop...	OMIM:135100
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Ataxia, Fine hair, Gait disturbance, Sparse hair, Triangular face	ORPHA:1174
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Erythrokeratodermia Variabilis	Alopecia, Tapered finger, Abnormal hair morphology, Microcephaly, Patchy palmoplantar hyperkerato...	ORPHA:317
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis	ORPHA:1008
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop...	OMIM:308050
Hypophosphatemic Rickets, X-Linked Dominant	Bowing of the legs, Osteoarthritis, Bone pain, Trapezoidal distal femoral condyles, Femoral bowin...	OMIM:307800
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fing...	ORPHA:3253
Hemophilia A	Splenic rupture, Joint swelling, Abnormality of the elbow, Joint hemorrhage	ORPHA:98878
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Hypoplastic toenails, Increased muscle lipid content, Knee fl...	OMIM:608836
Mixed Connective Tissue Disease	Alopecia, Mediastinal lymphadenopathy, Splenomegaly, Xerostomia, Lymphadenopathy, Arthritis, Join...	ORPHA:809
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Accelerated skel...	OMIM:203800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Sparse facial hair, Decreased palmar creases, Decreased serum estradiol, Triphalangea...	ORPHA:2232
Aromatase Deficiency	Macroorchidism, postpubertal, Osteopenia, Male infertility, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Bazex-Dupre-Christol Syndrome	Trichorrhexis nodosa, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Joint hypermobility	OMIM:301845
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Hypoplasia o...	OMIM:309520
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Wormian bones, Micrognathia, Insulin-resistant diabetes mellitus, Flexion...	OMIM:608612
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Ost...	OMIM:251450
Neurogenic Arthrogryposis Multiplex Congenita	Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ...	ORPHA:1143
Marfan Syndrome	Decreased muscle mass, Genu recurvatum, Micrognathia, Equinus calcaneus, Flexion contracture, Nar...	OMIM:154700
Dentin Dysplasia	Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation...	ORPHA:744
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteolysis involving bones of the upper l...	ORPHA:73
Hemochromatosis, Type 1	Arthropathy, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated h...	OMIM:235200
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density, Premature ovarian insufficiency, Pedal edema	ORPHA:75325
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, Nail pits, Congenital alopecia totalis	ORPHA:169095
Schnitzler Syndrome	Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Lymphadenopa...	ORPHA:37748
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Areflexia of l...	OMIM:615704
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Adult-Onset Still Disease	Generalized lymphadenopathy, Splenomegaly, Joint swelling, Arthritis, Bone marrow hypocellularity	ORPHA:829
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femoral condyles, R...	ORPHA:89936
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Craniosynostosis, Accelerated skeletal maturation, P...	ORPHA:525731
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Long n...	ORPHA:2636
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia, Microcephaly	ORPHA:2574
Poems Syndrome	Sclerosis of hand bone, Sclerotic vertebral endplates, Polycythemia, Hypothyroidism, Sclerosis of...	ORPHA:2905
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Nephrogenic diabetes insipidus, Abnormality of the humer...	ORPHA:3130
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Micrognathia, Flexion contracture, Calcinosis, Hepatomegaly, Alopecia, Hypoplasia of ...	OMIM:248370
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Microcephaly, Absent eyelashes, Sparse eyebrow, Decreased body weight, ...	ORPHA:2985
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Camptodactyly of finger, Short neck, Gonadal tissue inappropriate for externa...	ORPHA:261519
17Q11.2 Microduplication Syndrome	Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Macroorchidism, Malar flatte...	ORPHA:139474
Thyrocerebrorenal Syndrome	Renal insufficiency, Abnormality of the musculature of the limbs, Euthyroid goiter, Nonprogressiv...	ORPHA:3327
Tricho-Dento-Osseous Syndrome	Abnormal hair quantity, Dental enamel pits, Increased bone mineral density, Periapical tooth absc...	ORPHA:3352
Hyperparathyroidism, Transient Neonatal	Osteopenia, Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Recurrent ...	OMIM:618188
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Peripheral pulmonary artery stenosis, Slow-growing hair, Craniosynostosis, Highly arc...	OMIM:617506
Hypomelanosis Of Ito	Syndactyly, Alopecia, Microcephaly, Hand polydactyly, Radial deviation of finger, Macrocephaly, C...	OMIM:300337
Endocrine-Cerebroosteodysplasia	Small scrotum, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Micromelia, Pre...	OMIM:612651
Kid Syndrome	Sparse eyelashes, Equinus calcaneus, Coxa valga, Scarring alopecia of scalp, Sparse eyebrow, Pate...	ORPHA:477
Candidiasis, Familial, 1	Alopecia	OMIM:114580
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Short neck, Synophrys, Low anterior hairline, Hypoplasia of the brainstem, Sparse h...	ORPHA:391408
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Ravine Syndrome	Abnormal auditory evoked potentials	ORPHA:99852
Keratoderma Hereditarium Mutilans	Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Abnormal spinal cord morpholog...	ORPHA:494
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Osteopenia, Sparse scalp hair, Recurrent fractures, Single transverse palm...	ORPHA:2324
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Synophrys, Low anterior hairline, Hirsutism, Abnormally large globe	OMIM:300004
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Adenocarcinoma Of The Esophagus	Obesity, Clinodactyly of the 5th toe, Lymphadenopathy	ORPHA:99976
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Macs Syndrome	Joint laxity, Pes planus, Alopecia, Hypergonadotropic hypogonadism, Single transverse palmar crea...	OMIM:613075
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Alopecia totalis, Talipes, Aplasia/Hypoplasia of the distal ph...	ORPHA:1234
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Bone pain, Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic...	ORPHA:289176
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe	ORPHA:96190
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hepatomegaly, Hypospadia...	OMIM:301056
Slc35A2-Cdg	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo...	ORPHA:356961
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Arthrogryposis multiplex congenita, Rocker bottom foot, Micrognathia	OMIM:616570
Anauxetic Dysplasia 3	Femoral bowing, Trident hand, Short metacarpal, Thoracolumbar kyphoscoliosis, Wide anterior fonta...	OMIM:618853
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liver, Leth...	ORPHA:254892
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Sparse eyelashes, Abnormal dental enamel morphology...	ORPHA:1071
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyl...	ORPHA:1452
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Joint dislocation, Short neck, Knee flexion contracture, Hypoplasia of the...	OMIM:193700
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ...	OMIM:607634
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Micrognathia, Fine hair, Joint hyperflexibility, Broad thum...	ORPHA:251019
Moebius Syndrome	Micrognathia, Short neck, Congenital fibrosis of extraocular muscles, Hypoplasia of the brainstem...	OMIM:157900
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Ataxia, Joint stiffness, Abnormality of the thyroid gland, Car...	ORPHA:2047
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Absent frontal sinuses, Knee ...	OMIM:305620
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79443
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypogonadism, Li...	OMIM:612079
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Enlarged joints, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Fl...	OMIM:215150
Mandibuloacral Dysplasia	Alopecia, Abnormally large globe, Osteolytic defects of the distal phalanges of the hand, Sparse ...	ORPHA:2457
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Short neck, Flexion c...	OMIM:265000
Incontinentia Pigmenti	Delayed eruption of teeth, Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Kyphoscolio...	OMIM:308300
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Pes planus, Craniosynostosis, Microgna...	ORPHA:166035
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana...	OMIM:609166
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality	OMIM:617519
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Pulmonary cyst, Micrognathia, Wide anterior fontanel, Kyphosis, Nephroblastoma, En...	OMIM:618272
Crandall Syndrome	Alopecia, Brittle hair, Hypoplasia of penis, Fine hair, Pili torti, Abnormal testis morphology, S...	ORPHA:202
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, White hair, Premature graying of hair, Spa...	ORPHA:1775
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Pterygium, Rocker bottom foot, Micromelia, Micrognathia, Absen...	OMIM:256520
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia, Adducted thumb, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, ...	ORPHA:444051
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyelashes, Hypospadias, Sparse eyebrow, Macroorchidism, Malar flattening, Enamel hypoplasi...	OMIM:618874
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Ataxia, Slow-growing hair, Cranial hyperostosis, Fine hair, Hyperostosi...	ORPHA:2710
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Ataxia, Renal insuf...	ORPHA:35687
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh...	ORPHA:2616
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Bicoronal synostosis, Sandal gap, Camptodactyly of finger, Supernumerary nipple, M...	OMIM:619951
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi...	OMIM:613091
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hyperostosis, Generalized bone demineralization, Triangular face, Abnormal bone ossification	ORPHA:73230
Desmosterolosis	Increased bone mineral density, Renal agenesis, Talipes, Micromelia, Micrognathia, Metatarsus add...	ORPHA:35107
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Dysmenorrhea, Micro...	ORPHA:2067
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Hyd...	OMIM:259775
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Facial palsy,...	OMIM:611490
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Micrognathia, Generalized joint laxi...	ORPHA:99330
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, Low anterior hairline, Prominent fingertip pads, Ataxia, Taper...	OMIM:619950
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials	OMIM:125250
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis	OMIM:614441
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ...	ORPHA:93346
Satoyoshi Syndrome	Pes planus, Short metacarpal, Alopecia, Short metatarsal, Amenorrhea, Osteolytic defects of the p...	OMIM:600705
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Ataxia, Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Rhizomel...	ORPHA:50945
Cowden Syndrome 6	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyp...	OMIM:615109
Familial Afibrinogenemia	Joint swelling	ORPHA:98880
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Onycholysis, Porphyrinuria	OMIM:176100
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Hyperphosphaturia, Recurrent fractures, Kyphos...	OMIM:163200
Joubert Syndrome 37	Hepatomegaly, Prominent metopic ridge, Molar tooth sign on MRI, Lumbar hyperlordosis, Postaxial p...	OMIM:619185
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cutaneous syndactyly, Palmoplantar kera...	ORPHA:2890
Prolidase Deficiency	Hepatomegaly, Recurrent respiratory infections, Recurrent cystitis, Arachnodactyly, Abnormal fing...	ORPHA:742
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent respiratory infections, Recurrent urinary tract infections, Fetal pyelectasis, Megacyst...	OMIM:619365
Pontocerebellar Hypoplasia, Type 12	Rocker bottom foot, Micrognathia, Hypoplasia of the brainstem, Talipes equinovarus, Overlapping f...	OMIM:618266
Bresek Syndrome	Renal dysplasia, Hypoplasia of the bladder, Alopecia, Cryptorchidism, Postaxial hand polydactyly,...	ORPHA:85284
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Cowden Syndrome 5	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyp...	OMIM:615108
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Cryptorchidism, Patchy alopec...	ORPHA:85279
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema...	ORPHA:69735
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Facial ...	OMIM:259720
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Arachnodactyly, Hypoplasia of the pons, Pancreatitis, Unsteady gait, Limb ataxia, Ankle...	ORPHA:412057
Craniometadiaphyseal Dysplasia	Osteopenia, Sclerosis of skull base, Abnormally large globe	OMIM:269300
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Short iliac bones, Metaphyseal sclerosis, Metaphyseal widening, Lymphadeno...	OMIM:607944
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Sparse scalp hair, Small scrotum, Clitoral hypertroph...	ORPHA:85201
Pseudohypoparathyroidism Type 1C	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:79444
Cowden Syndrome 1	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyp...	OMIM:158350
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Rocker bottom foot, Anisocytosis, Micrognathia, Flexion contracture, Renal hypoplas...	OMIM:604273
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Alopecia, Pancytopenia, Ataxia, Aplastic anemia, Avascular necrosis of the ca...	OMIM:613990
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Thick eyebrow, Craniosynostosis, Abnormally large globe, Osteoporosis, Low posterior ...	OMIM:245600
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Ataxia, Follicular thyroid carci...	ORPHA:201
Ascher Syndrome	Deviation of finger, Hypothyroidism, Goiter	ORPHA:1253
Mosaic Trisomy 1	Thoracic scoliosis, Hypoplastic thumbnail, Congenital diaphragmatic hernia, Single transverse pal...	ORPHA:1692
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the...	OMIM:129500
Camurati-Engelmann Disease	Mandibular prognathia, Skeletal muscle atrophy, Increased bone mineral density, Waddling gait, Ca...	OMIM:131300
Van Maldergem Syndrome 2	Osteopenia, Bifid scrotum, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Clin...	OMIM:615546
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Recurrent respira...	ORPHA:2484
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Premature graying of hair, Short...	OMIM:268400
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Abnormal...	OMIM:312870
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Renal cyst, Hepatic fibrosis, Sparse hair, Syndactyly, Hypospadias, Renal hypoplasia,...	OMIM:614091
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon...	ORPHA:95715
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Micromelia, Short neck, Postaxial hand polyd...	OMIM:200995
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O...	ORPHA:3077
Pendred Syndrome	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation	OMIM:274600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Ureteral duplication, Arachnodactyly, Abnormal dental...	ORPHA:96169
Chromosome 20Q11-Q12 Deletion Syndrome	Adducted thumb, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:614257
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Joint swelling, Failure to thrive in infancy, Lymphadenopathy	OMIM:617099
Achondrogenesis, Type Ii	Absent vertebral body mineralization, Abnormally large globe	OMIM:200610
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Sh...	OMIM:609945
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairline, Coarse hair,...	ORPHA:1394
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Talipes calc...	OMIM:300534
Sanjad-Sakati Syndrome	Hypoparathyroidism, Recurrent respiratory infections, Hypoplasia of penis, Abnormal dental enamel...	ORPHA:2323
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal fingernail morphology, Dental malocclusion, Hyperconvex thumb nai...	ORPHA:3079
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Fused cervical vertebrae, Failure to thrive in infancy, Joint swelling	OMIM:612852
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Increased ur...	OMIM:239000
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Myopathy, Pheochromocy...	OMIM:162300
Ane Syndrome	Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog...	ORPHA:157954
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Decreased response to grow...	ORPHA:94089
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Re...	OMIM:614815
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi...	ORPHA:3236
Bartsocas-Papas Syndrome 1	Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Ectopic kidney, Flexion contra...	OMIM:263650
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma...	OMIM:275000
Cerebellar-Facial-Dental Syndrome	Single transverse palmar crease, Micrognathia, Hypoplasia of the pons, Short neck, Hypoplasia of ...	ORPHA:444072
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Abnormal...	ORPHA:2092
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Waddli...	ORPHA:94068
Oculoauriculovertebral Spectrum With Radial Defects	Abnormality of the middle ear ossicles, Sensorineural hearing impairment, Abnormality of the inne...	ORPHA:2549
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor	OMIM:616390
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Hyperostosis, Craniofacial osteosclerosis, Osteolysis	ORPHA:324964
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Thyroidit...	ORPHA:39041
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Ataxia, Microcephaly, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Failure...	OMIM:616353
Williams Syndrome	Osteopenia, Hypoplasia of penis, Micrognathia, Hypoplastic toenails, Cardiomegaly, Dysmetria, Abn...	ORPHA:904
Fg Syndrome 3	Broad hallux, Cryptorchidism, Fine hair, Frontal upsweep of hair, Sparse hair, Joint contracture,...	OMIM:300406
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Wormian bones, Metaphyseal spurs, Metaphyseal widening, Ost...	OMIM:309400
Van Maldergem Syndrome 1	Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous finger sy...	OMIM:601390
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i...	OMIM:262000
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Camptodactyly of finger, Urinary...	ORPHA:263487
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Abnorm...	ORPHA:1005
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Shor...	OMIM:619762
Isolated Follicle Stimulating Hormone Deficiency	Gonadotropin deficiency, Decreased serum estradiol, Male hypogonadism, Hypogonadotropic hypogonad...	ORPHA:52901
Lyme Disease	Arthritis, Joint swelling	ORPHA:91546
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the...	ORPHA:1507
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Swelling of proximal interphalangeal joints, Ankle swelling, Splenom...	ORPHA:3260
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun...	OMIM:619902
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Short neck, Abnormal lung lobation, Hemi...	ORPHA:99776
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Abnormality of the nail, Large tarsal...	ORPHA:3168
Vulto-Van Silfhout-De Vries Syndrome	Mandibular prognathia, Joint laxity, Sacral dimple, 2-3 toe cutaneous syndactyly, Widow's peak, F...	OMIM:615828
Systemic Sclerosis	Abnormal phalangeal joint morphology of the hand, Alopecia, Nail bed telangiectasia, Osteolytic d...	ORPHA:90291
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Aminoaciduria, Loss of ambulat...	OMIM:214100
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Arthrogryposis multiplex congenita, Hypoplasia of the brainstem, Retrognathia, Rocker bottom foot	OMIM:619072
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hematuria, Coarse hair, Nail dystrophy, N...	OMIM:158310
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme...	ORPHA:52368
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Single transverse palmar crease, Short neck, Tibi...	OMIM:269150
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R...	OMIM:614078
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Spar...	ORPHA:221016
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Rocker bottom foot, Micrognathia, Kyphoscoliosis, Adducted thumb, Elbow ...	OMIM:610758
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Hyperlordosis, Small hand, Wide nasal bridge, Talipes e...	OMIM:619980
Alpha-Heavy Chain Disease	Splenomegaly, Alopecia, Ascites, Lymphadenopathy	ORPHA:100025
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Bifid scrotum, Brachydactyly, Hypoplasia of penis, Hypogonadotropic hypogonadism, Joint stiffness...	ORPHA:1295
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr...	OMIM:180295
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Epispadias, Hemivertebrae, Coxa vara, ...	ORPHA:3107
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Erythrodontia, Hepatomegaly, Hemolytic anemia, Splenomegaly...	OMIM:263700
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai...	ORPHA:2325
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Abn...	ORPHA:3224
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcan...	ORPHA:261537
Temtamy Preaxial Brachydactyly Syndrome	Short nose, Abnormally large globe	ORPHA:363417
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Moderate Hemophilia A	Arthropathy, Hip contracture, Synovitis, Joint swelling, Joint hemorrhage	ORPHA:169805
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ...	ORPHA:85327
Cerebellofaciodental Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Sparse eyebrow, Cryptorchidism, Dela...	OMIM:616202
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Abnormally large globe	OMIM:603387
N Syndrome	Abnormality of chromosome stability, Hearing impairment	OMIM:310465
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s...	ORPHA:363528
Usher Syndrome Type 3	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231183
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Prominent metopic ridge, Multicystic kidney dysplasia...	ORPHA:261349
49,Xxxyy Syndrome	Mandibular prognathia, External genital hypoplasia, Abnormality of the testis size, Micrognathia,...	ORPHA:261534
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Morgagni diaphragm...	OMIM:613177
Craniofrontonasal Syndrome	Ridged nail, Congenital diaphragmatic hernia, Short neck, Clinodactyly of the 5th finger, Joint l...	OMIM:304110
Holocarboxylase Synthetase Deficiency	Alopecia, Ataxia, Anorexia, Weight loss, Irritability, Lethargy	ORPHA:79242
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, External genital hypoplasia, Tapered finge...	ORPHA:1867
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Neoplasm of the lung, Lymphadenopathy, Anaplastic thyroid ca...	ORPHA:142
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Urethral atresia, Hand ...	OMIM:314390
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foo...	OMIM:301041
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Alo...	OMIM:614008
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant...	OMIM:194300
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Lethargy, Goiter	OMIM:274400
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing...	ORPHA:221008
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Short fourth metatarsal, Short fifth metatarsal, Clinodactyly of the 5th toe, Aggressiv...	OMIM:261990
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Choreoathetosis, Focal segmental glo...	OMIM:619603
Thyroid Cancer, Nonmedullary, 4	Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm	OMIM:616534
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Single transverse...	OMIM:601957
Atkin-Flaitz Syndrome	Macroorchidism, Maxillary lateral incisor microdontia	ORPHA:1193
Mogs-Cdg	Hepatomegaly, Alopecia, Fair hair, Left ventricular hypertrophy, External genital hypoplasia, Tho...	ORPHA:79330
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna...	ORPHA:959
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysp...	OMIM:212360
Ritscher-Schinzel Syndrome 4	Curly hair, Ulnar deviation of the hand, Ataxia, Tapered finger, Cryptorchidism, Hip dislocation,...	OMIM:619435
Alzheimer Disease 3	Neurofibrillary tangles, Dementia, Gait disturbance, Memory impairment, Optic ataxia	OMIM:607822
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Clitoral hypertrophy, Extramedullary hematopoiesis, Hypoplastic ischia, ...	ORPHA:313855
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Skeletal muscle atrophy, Stenosis of the medullary cavity of the long bones, Diaphyse...	OMIM:112250
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology...	ORPHA:1133
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Micrognathia, Synophrys, Knee di...	ORPHA:536545
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hepatomegaly, Hyperl...	OMIM:226980
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Joint laxity, Hypospadias, Ataxia, Proteinuria, Glomerulonephritis, Single transverse palmar crea...	OMIM:619428
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Tubulointerstitial nephritis, Hepatic fibrosis, Sparse hair, Joi...	OMIM:218330
Partington Syndrome	Macroorchidism, Gait disturbance	ORPHA:94083
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f...	ORPHA:565
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, Wide nasal bridge, Abnormally large globe	OMIM:300749
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Sparse ...	OMIM:610756
Classic Mycosis Fungoides	Alopecia, Edema, Splenomegaly, Lymphadenopathy, Abnormality of the nail	ORPHA:2584
Ogden Syndrome	Congenital hip dislocation, Maternal diabetes, Micrognathia, Cardiomegaly, Microvesicular hepatic...	OMIM:300855
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Spinal cord compression, Chronic kidney disease, Abnormal skeletal ...	ORPHA:314652
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ...	OMIM:615873
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Finger syndactyly, Recurrent respiratory infections, Congenital hip dislocation, T...	ORPHA:217346
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Abnormal lung lo...	OMIM:615415
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and...	OMIM:261900
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Wrist swelling, Wide nasal bridge, Metacarpal ost...	ORPHA:2774
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi...	ORPHA:2633
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcan...	ORPHA:2152
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Metaphyseal widening, C...	OMIM:618476
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Polyuria, Megacystis	OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Megacystis, Polyuria	OMIM:125800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fibrosis, Hep...	ORPHA:79259
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo...	ORPHA:3206
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Facial palsy, Delayed closure of the anterior fontanell...	OMIM:230740
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnor...	ORPHA:93315
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcan...	ORPHA:261552
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot...	OMIM:271225
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo...	ORPHA:1307
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Bicoronal synostosis, Brittle hair, Hypospadias, Joint stiffness, Long nose, Short long bone, Sco...	OMIM:619184
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Severe Hemophilia A	Joint swelling, Joint hemorrhage, Synovitis, Progressive joint destruction	ORPHA:169802
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hepatic steatosis, Brittle hair, Arachnodactyly, Kyphoscoliosis, Methioninuria, Limitation of joi...	OMIM:236200
Progeroid Syndrome, Petty Type	Mandibular prognathia, Brittle hair, Abnormal hair morphology, Wide anterior fontanel, Abnormalit...	ORPHA:2963
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Usher Syndrome Type 1	Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction	ORPHA:231169
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Hypoplastic toenails, Ectopic kidney, Short neck, Reduced bone mineral ...	ORPHA:99413
6Q25 Microdeletion Syndrome	Rocker bottom foot, Camptodactyly of finger, Micrognathia, External genital hypoplasia, Wide nasa...	ORPHA:251056
Mosaic Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, Ectopic kidney, Short neck, Reduced bone mineral ...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Hypoplastic toenails, Ectopic kidney, Short neck, Reduced bone mineral ...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Ectopic kidney, Short neck, Reduced bone mineral ...	ORPHA:881
Cranioectodermal Dysplasia 3	Joint laxity, Sandal gap, Short nail, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa...	OMIM:614099
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation	OMIM:211900
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Gomez-Lopez-Hernandez Syndrome	Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide a...	OMIM:601853
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia, Micrognathia, Short neck, Abnormal lung lobation, Hemivertebrae,...	ORPHA:958
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S...	OMIM:615777
Branchiootorenal Syndrome 1	Renal malrotation, Congenital hip dislocation, Facial palsy, Unilateral renal agenesis, Renal ste...	OMIM:113650
Cartilage-Hair Hypoplasia	Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Neutropenia, Short palm, Spa...	OMIM:250250
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Sparse eyebrow, ...	ORPHA:73246
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Gaucher Disease	Osteopenia, Joint dislocation, Osteoarthritis, Bone pain, Avascular necrosis, Hepatomegaly, Incre...	ORPHA:355
Follicular Lymphoma	Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Pleural effu...	ORPHA:545
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Toe syndactyly, Hypoplasi...	ORPHA:1512
Cortisone Reductase Deficiency 1	Alopecia, Obesity, Hirsutism	OMIM:604931
Monosomy 18P	Alopecia, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Wide nasal bridge, Low posteri...	ORPHA:1598
Niemann-Pick Disease, Type A	Failure to thrive, Inability to walk, Splenomegaly, Lymphadenopathy, Athetosis, Irritability, Mac...	OMIM:257200
Retinal Dystrophy With Or Without Extraocular Anomalies	Premature ovarian insufficiency, Pulmonary fibrosis, Secondary amenorrhea, Goiter	OMIM:617175
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Hip dislocation, Dehydration, Fine hair, Genu valgum, Arthritis, Joint swellin...	ORPHA:534
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Facial palsy, Wide nasal bridge, Osteopetrosis, Abnormal metaphysis mo...	ORPHA:1522
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology, Alopecia of scalp, Toenail dysplasia, Ataxia	ORPHA:1532
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accelerated skeletal matura...	OMIM:602535
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Recurrent respiratory infections, Micromelia, Precocious puberty, Delayed skeletal maturation, Wi...	ORPHA:2637
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Polyhydramnios, Taper...	ORPHA:544488
Oncogenic Osteomalacia	Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp...	ORPHA:352540
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Cryptorchidism, Wide nasal bridge, Ambiguous genita...	ORPHA:1237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypoplasia of the...	OMIM:129900
Pendred Syndrome	Hyperparathyroidism, Ataxia, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter	ORPHA:705
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Acrogeria	Micrognathia, Small hand, Fine hair, Short foot, Joint hyperflexibility, Scoliosis	ORPHA:2500
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Neutropenia, Clinodactyly of the ...	ORPHA:193
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Hyperconvex nail, Microcephaly, Delayed pro...	ORPHA:353298
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Recurrent respiratory infections, Tapered finger, Jo...	ORPHA:2746
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Camptodactyly of finger, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Acromegaly	Abnormal fingernail morphology, Macrodactyly, Palpebral edema, Tapered finger, Synophrys, Osteoar...	ORPHA:963
Hallermann-Streiff Syndrome	Natal tooth, Alopecia, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Micrognathia, Spars...	ORPHA:2108
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Somatomammotropinoma	Abnormal fingernail morphology, Macrodactyly, Palpebral edema, Tapered finger, Synophrys, Osteoar...	ORPHA:314769
Adams-Oliver Syndrome 2	Alopecia, Single transverse palmar crease, Microcephaly, Low anterior hairline, Absent distal pha...	OMIM:614219
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Increased bone mineral density, Stage 3 chronic kidney disease, Cortical scl...	OMIM:620366
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hypoplastic toenails, Knee flexion contracture, Clinodactyly of the 5th finger, Bilateral single ...	ORPHA:488642
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Abnormality of the middle ear ossic...	ORPHA:949
Chikungunya	Facial edema, Cervical lymphadenopathy, Ankle joint effusion, Synovitis, Pedal edema, Lymphadenop...	ORPHA:324625
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Epidermolysis Bullosa, Junctional 1A, Intermediate	Plantar hyperkeratosis, Camptodactyly of finger, Carious teeth, Patchy alopecia, Nail dystrophy, ...	OMIM:226650
Osteopetrosis, Autosomal Recessive 6	Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero...	OMIM:611497
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Abnormality ...	ORPHA:2909
Opitz-Kaveggia Syndrome	Multiple joint contractures, Single transverse palmar crease, Micrognathia, Short neck, Sparse ha...	OMIM:305450
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te...	OMIM:620099
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormality of the wrist, Abnormal foot morphology, O...	ORPHA:1657
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Delayed proximal femoral epi...	OMIM:271640
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Overlapping toe, Small scrotum, Micrognathia, Abnormal foot morphology, Cuta...	OMIM:617822
Seckel Syndrome 1	Abnormally large globe	OMIM:210600
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Decreased glomer...	OMIM:232200
Lymphoid Interstitial Pneumonia	Hepatomegaly, Multiple pulmonary cysts, Respiratory tract infection, Mediastinal lymphadenopathy,...	ORPHA:79128
Trichothiodystrophy 6, Nonphotosensitive	Broad-based gait, Brittle hair, Slow-growing hair, Coxa valga, Delayed skeletal maturation, Coron...	OMIM:616943
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Delayed skeletal maturation, Elevated circulating th...	ORPHA:99832
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Abnormal ti...	ORPHA:666
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Mandibular prognathia, Cryptorchidism, Wide nasal bridge, Genu valgum, Low posterior hairline, Jo...	ORPHA:1778
Xylt1-Cdg	Joint laxity, Hepatomegaly, Joint dislocation, Pes planus, Coxa valga, Accelerated skeletal matur...	ORPHA:370930
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Diabetes mellitus, Rocker bottom foot, Highly arched eyebrow, Single trans...	OMIM:618622
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Ac...	OMIM:130070
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Wide nasal bridge, Failure to thrive, Bilateral single transverse palmar ...	ORPHA:50812
Visceral Myopathy 2	Megacystis	OMIM:619350
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis	ORPHA:79397
Immunodeficiency 104	Splenomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy	OMIM:608971
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia, Renal cyst, Myopathy	OMIM:109130
Frank-Ter Haar Syndrome	Osteopenia, Abnormally large globe, Osteoporosis, Buphthalmos, Cortical irregularity	OMIM:249420
Polyembryoma	Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ...	ORPHA:180229
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Recurrent urinary tract infections, Sacral dimple, Abn...	OMIM:610443
Charcot-Marie-Tooth Disease, Type 4D	Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p...	OMIM:601455
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Microcephaly, Splenomegaly, S...	OMIM:616651
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Flexion contracture, Hu...	OMIM:207410
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Short neck, Sparse eyebrow, Kyphoscoliosis, ...	OMIM:302960
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Incontinentia Pigmenti	Abnormal hand morphology, Abnormal toenail morphology, Spina bifida occulta, Abnormality of the n...	ORPHA:464
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal fingertip morphology, Micrognathia, Abnormal hair morphology, Oste...	ORPHA:90154
Jaberi-Elahi Syndrome	Broad-based gait, Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Inability to w...	OMIM:617988
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Single transverse palmar crease, Splenomegaly, Osteopetro...	OMIM:618541
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Weight loss, Anorexia, Lymphadenopathy	ORPHA:86893
Rapp-Hodgkin Syndrome	Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Sparse hair, Syndactyly, Hypospadias, Sp...	OMIM:129400
Joubert Syndrome 7	Ataxia, Brainstem dysplasia, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic k...	OMIM:611560
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic...	OMIM:615382
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Malar prominence, Micrognathia, Spinal cord compression, Short neck, Hyperlordosis, ...	ORPHA:2522
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Brain stem c...	OMIM:100800
Adams-Oliver Syndrome	Leukopenia, Absent fingernail, Sparse hair, Pulmonary artery atresia, Finger syndactyly, Alopecia...	ORPHA:974
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Bronchiectasis, Female infertility, Goiter	OMIM:617577
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Oculocerebrocutaneous Syndrome	Cryptorchidism, Alopecia, Congenital hip dislocation	OMIM:164180
Short Syndrome	Alopecia, Diabetes mellitus, Abnormal dental enamel morphology, Abnormal zygomatic bone morpholog...	ORPHA:3163
Hallermann-Streiff Syndrome	Micrognathia, Metaphyseal widening, Choreoathetosis, Sparse hair, Spina bifida, Hyperlordosis, Sp...	OMIM:234100
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment...	ORPHA:1215
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Oculodentodigital Dysplasia	Dry hair, Neurogenic bladder, Slow-growing hair, Ataxia, Carious teeth, Clinodactyly, 4-5 finger ...	OMIM:164200
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Abnormal dental ename...	ORPHA:251004
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Concave nail, ...	ORPHA:3071
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Distal Deletion 12Q	Single transverse palmar crease, Micrognathia, Ectopic kidney, Short neck, Biliary atresia, Aplas...	ORPHA:96149
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia	OMIM:617306
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Sparse eyelashes, Fifth finger...	OMIM:257850
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Sandal gap, Abnormal dental enamel morphology, Supernumerary nipple, Cryptor...	ORPHA:1812
Gaucher Disease Type 3	Hepatomegaly, Increased bone mineral density, Recurrent respiratory infections, Ataxia, Proteinur...	ORPHA:77261
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Facial palsy, Sclerotic scapulae, Dental malocclusion, 2-3 fin...	OMIM:269500
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel...	ORPHA:653
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density, Hyperinsulinemia	OMIM:618406
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:216400
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss	ORPHA:100083
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Ogden Syndrome	Microretrognathia, Torticollis, Broad hallux, Delayed cranial suture closure, Cryptorchidism, Pul...	ORPHA:276432
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Pulmonary hypoplasia, Renal co...	OMIM:619351
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi...	OMIM:225400
Sandestig-Stefanova Syndrome	Laterally extended eyebrow, Prominent metopic ridge, Rocker bottom foot, Highly arched eyebrow, S...	OMIM:618804
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair, Palmoplantar keratoderma	OMIM:610476
Pontocerebellar Hypoplasia Type 10	Abnormal brainstem morphology, Long eyelashes, Wide nasal bridge, Highly arched eyebrow	ORPHA:411493
Smith-Kingsmore Syndrome	Curly hair, Rhizomelia, Diastasis recti, Short proximal phalanx of finger, Cryptorchidism, Wide a...	OMIM:616638
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Frontotemporal dementia, Dementia, Memory impairment	OMIM:619132
X-Linked Intellectual Disability, Miles-Carpenter Type	Skeletal muscle atrophy, Hypogonadism, Rocker bottom foot, Joint hyperflexibility	ORPHA:85283
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypertrichosis, Abnormally large globe	ORPHA:1655
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Accel...	ORPHA:116
Hand-Foot-Genital Syndrome	Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda...	OMIM:140000
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Premature graying of hair, Early onset of sexual maturation, Nep...	OMIM:194050
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Talipes,...	ORPHA:1647
Classic Hodgkin Lymphoma	Ataxia, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Facial palsy, Carious teeth, Preaxial hand polydactyly, Absent eyelashe...	ORPHA:2316
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Widely spaced toes, Absent fingernail, Mitten deformity...	OMIM:609638
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal...	OMIM:208540
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Renal cyst, Vertebral segmentation defect, Clinodactyly of the 5th finger,...	OMIM:272460
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin...	OMIM:300106
Macrophthalmia, Colobomatous, With Microcornea	Increased axial length of the globe	OMIM:602499
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Polyc...	ORPHA:2228
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Prominent fingertip pads, Delayed skeletal maturation, Narrow foot, Fine hair, Long eyelashes, La...	ORPHA:231137
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Nail dysplasia, Sp...	OMIM:104100
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Tarsal synostosis, Camptodactyly of finger, Metacarpophalangeal...	ORPHA:3250
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, Arachnodactyly, Abnormality of neutrophils, White hair, Abnormal brainstem morphology, Re...	ORPHA:2720
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Flexion contracture, Limitation of joint...	ORPHA:90153
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Joint laxity, Hypospadias, Micrognathia, Long fingers, Fine hair, Broad distal phalanx ...	ORPHA:363686
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Hepatic steatosis, Alopecia, Paradoxical increased cortisol sec...	ORPHA:189427
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Confusion, Neurofibrillary tangles, Dementia, Semantic dementia, Memory impairment	ORPHA:1020
Isolated Cleft Lip	Conductive hearing impairment, Chronic otitis media, Abnormal Eustachian tube morphology, Polyhyd...	ORPHA:199302
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co...	ORPHA:79414
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro...	OMIM:607823
Autosomal Dominant Spastic Paraplegia Type 36	Urinary incontinence, Abnormal brainstem MRI signal intensity, Urinary urgency, Arthritis, Pes ca...	ORPHA:320365
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Thrombocyto...	ORPHA:83601
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Pes planus, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Hip dislo...	OMIM:614438
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia,...	ORPHA:245
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, True hermaphroditism, Nephrobla...	OMIM:194080
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Long...	ORPHA:500095
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br...	ORPHA:710
Meckel Syndrome 12	Rocker bottom foot, Ureteral hypoplasia, Micrognathia, Antecubital pterygium, Renal hypoplasia, W...	OMIM:616258
Sturge-Weber Syndrome	Hyperostosis, Attention deficit hyperactivity disorder	ORPHA:3205
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Prominent metopic ...	ORPHA:576
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Abnormal re...	OMIM:137940
Lig4 Syndrome	Hepatomegaly, Abnormality of chromosome stability, Hypoplasia of penis, Pancytopenia, Micrognathi...	ORPHA:99812
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Recurrent respiratory infectio...	ORPHA:667
Reactive Arthritis	Weight loss, Arthritis, Joint swelling, Dystrophic fingernails, Abnormality of the nail	ORPHA:29207
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Hypergonadotropic hypogonadism, Recurrent shoulder dislocation, Down-sloping shoulder...	OMIM:212112
Aspartylglucosaminuria	Joint laxity, Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Kyphosis, D...	OMIM:208400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Thyroid Lymphoma	Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Proteus-Like Syndrome	Hyperostosis	ORPHA:2969
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Carious teeth, ...	OMIM:311200
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Sparse hair...	OMIM:139210
Desmosterolosis	Rhizomelia, Micrognathia, Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous geni...	OMIM:602398
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Ataxia, Increased urinary sulfite level, Fine hair, ...	OMIM:272300
Glutaric Aciduria Iii	Glutaric aciduria, Hyperthyroidism, Goiter	OMIM:231690
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Fine hair, Abnormality of the bladder, Hematuria, Pul...	ORPHA:1839
Endove Syndrome, Limb-Brain Type	Joint laxity, Neurogenic bladder, Toe syndactyly, Osteomyelitis, Recurrent urinary tract infectio...	OMIM:619218
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ...	OMIM:600920
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Osteoporos...	OMIM:612199
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Broad-based gait, Brittle hair, Slow-growing hair, Sparse eyebrow, Micrope...	OMIM:300953
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calc...	OMIM:271665
Meckel Syndrome, Type 10	Sacral dimple, Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Malformation of t...	OMIM:614175
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2...	OMIM:123150
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Micrognathia, Short neck, Flexion contracture, Acanthocytosis, Wide nasal brid...	OMIM:618947
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, Splenomegaly,...	ORPHA:381
Noonan Syndrome 14	Curly hair, Scapular winging, Pes planus, Short neck, Sparse eyebrow, Cryptorchidism, Kyphosis, L...	OMIM:619745
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex	OMIM:176920
Mirage Syndrome	Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal h...	OMIM:617053
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, ...	OMIM:264090
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Alopecia, Myositis, Renal insufficiency, Proteinuria, Lymphadenopathy, H...	ORPHA:93552
Monosomy 9P	Proximal placement of thumb, Congenital diaphragmatic hernia, Micrognathia, Short neck, Synophrys...	ORPHA:261112
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Palmoplantar hyperkeratosis, Clubbing of finge...	OMIM:605676
Tarp Syndrome	Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Finger syndactyly, C...	ORPHA:2886
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, S...	ORPHA:1433
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Aqueductal ...	ORPHA:3035
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, Clitoral hypoplasia, Cl...	ORPHA:2554
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Micrognathia, Abnormality of hair texture, Hypophosph...	ORPHA:73223
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Square pelvis bone...	OMIM:133540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis	OMIM:619431
Sézary Syndrome	Alopecia, Edema, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Nail dystrophy	ORPHA:3162
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Breast hypoplasia,...	ORPHA:978
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hai...	OMIM:115150
3Mc Syndrome 2	Prominence of the premaxilla, Torticollis, Hypospadias, Diastasis recti, Hypoplasia of the muscul...	OMIM:265050
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Alopecia, Diabetes mellitus, Hypoplasia of penis, Hypospadias, Abnorma...	ORPHA:2315
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Alopecia, Osteomyelitis, Eosinophilia, Micrognathia, Recurrent ...	OMIM:618282
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Palmoplantar hyperkeratosis, Gait ataxia, Sparse hair, Clinodactyly of the 5th finger, Hepatomega...	OMIM:280000
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Gait apraxia, Dysmetria, Gait disturbance	OMIM:600142
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Thin fingernail, Hypospadias, Abnormal dental enamel morphology, Aplastic clavicl...	ORPHA:85199
Alkaptonuria	Joint dislocation, Osteoarthritis, Arthritis, Joint swelling, Abnormality of the nail	ORPHA:56
Blau Syndrome	Camptodactyly of finger, Synovitis, Arthritis, Joint swelling, Flexion contracture of toe, Cystoi...	OMIM:186580
Beta-Thalassemia Intermedia	Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,...	ORPHA:231222
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Anorexia, Clubbing, Xerostomia, Clubbing of fingers, Nail dystrophy, Nail dys...	OMIM:175500
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Recurrent respiratory infections, Camptodactyly of finger, Micrognathia, Thyr...	ORPHA:3047
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Alopecia, Premature ovarian insufficiency, Female hypogonadism, Cholelithiasi...	OMIM:240300
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Choreoathetosis, Complex organic aciduria, ...	ORPHA:506
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Bi...	OMIM:617746
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Short nose, Delayed eruption of permanent teeth, Rocker bottom foot	OMIM:618506
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur...	ORPHA:449395
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Bilateral trilobed lung, Congenital hip dislocation, Block vertebrae, Renal agenesi...	OMIM:306955
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Tapered finger, Micrognathia, Short neck, Synophrys, Wide nasal bridge, Hypoplasia of teeth, Fine...	OMIM:620250
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Pleural Mesothelioma	Pleural effusion, Weight loss, Dysphagia, Lymphadenopathy	ORPHA:50251
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Curly hair, Pes planus, Arachnodactyly, Ataxia, Micrognathia, Hyperlordosis, Gait d...	OMIM:300986
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Small scrotum, Cryptorchidism, Fine hair, Hypogonadism, Coronal craniosynostosis	ORPHA:228390
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Abnormal brainstem MRI signal intensity, Metaphyseal chondrodysplasia, Enlargement of the wrists,...	ORPHA:83629
X-Linked Agammaglobulinemia	Alopecia, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung m...	ORPHA:47
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele testis, Foot pol...	ORPHA:276280
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Alopecia, Abnormal fingernail morphology, Carious teeth, Ankylosis, Osteolysis, Neoplasm of the l...	ORPHA:659
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Hyperthyroidism, Goiter	OMIM:188580
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Abnormal brainstem MRI signal intensity, Ataxia	ORPHA:263410
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Molar tooth sign on MRI, Short ti...	OMIM:616300
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ...	OMIM:229850
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Congenital hip dislocation, Brittle hair, Congenital diaphragm...	OMIM:305600
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Ambiguous genitalia, Penoscrotal hypospadias, Unilateral cryptor...	OMIM:618280
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Joint laxity, Recurrent respiratory infections, Toe syndactyly, Overlappin...	OMIM:601808
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Immunodeficiency 54	Chromosome breakage, Microcephaly, Splenomegaly, Lymphadenopathy, Failure to thrive	OMIM:609981
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Glomerulopathy, Renal insufficiency, Sandal gap, Proteinuria, Malar promin...	ORPHA:2715
Acromesomelic Dysplasia 3	Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ...	OMIM:609441
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert...	ORPHA:280
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints...	OMIM:186570
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Ataxia, Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Na...	OMIM:127550
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Paronychia, Renal cyst, Aplasia/Hypoplasia of the bladder, Ureterocele, Abnor...	ORPHA:79404
Flat Face-Microstomia-Ear Anomaly Syndrome	Small scrotum, Camptodactyly of finger, Highly arched eyebrow, Micrognathia, Sparse eyebrow, Cryp...	ORPHA:1968
Hemifacial Atrophy, Progressive	Patchy alopecia, Ataxia, Poliosis	OMIM:141300
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Agitation, Microcephaly	OMIM:618840
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Hypoplasia of the brainstem, Joint laxity, Thoracolumbar ...	ORPHA:480880
Immunodeficiency 27A	Hypoplasia of the femoral head, Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphaden...	OMIM:209950
Congenital Toxoplasmosis	Microcephaly, Ascites, Failure to thrive in infancy, Lymphadenopathy	ORPHA:858
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Male...	ORPHA:90790
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Absent axillary ha...	ORPHA:2269
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth...	OMIM:613239
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Lymphade...	ORPHA:1332
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Micrognathia, Proximal femoral metaphyseal irregularity, Early ossification of capital femoral ep...	ORPHA:397715
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Distal Duplication 6P	Abnormal hair quantity, Sacral dimple, Micrognathia, Abnormal eyelash morphology, Short neck, Abn...	ORPHA:1745
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal morphology of ulna, Short neck, Abnormal eyelash morpho...	ORPHA:1340
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Nicolaides-Baraitser Syndrome	Dry hair, Enlarged joints, Single transverse palmar crease, Short metatarsal, Low anterior hairli...	OMIM:601358
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Abnormality of the kidney, Micrognathia, Cryptorchidism...	ORPHA:1724
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B...	ORPHA:400
Hawkinsinuria	4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Fine hair, Sparse hair, Hypothyr...	ORPHA:2118
Acromesomelic Dysplasia 4	Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, Genu varum, Short me...	OMIM:619636
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Dyskeratosis Congenita, X-Linked	Ridged nail, Pterygium of nails, Premature graying of hair, Leukopenia, Pterygium, Split nail, Al...	OMIM:305000
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobatio...	ORPHA:672
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Joint sw...	OMIM:619381
Noonan Syndrome 4	Curly hair, Ureteral duplication, Short neck, Sparse eyebrow, Cryptorchidism, Delayed skeletal ma...	OMIM:610733
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles, Dementia	DECIPHER:48
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Lymphadenopathy, Fine hair, Weight loss, G...	ORPHA:2221
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Promi...	OMIM:135900
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Lethal Acantholytic Erosive Disorder	Natal tooth, Absent eyebrow, Cardiomegaly, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger sy...	ORPHA:158687
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pes planus, Sparse eyelashes, Rocker bottom foot, Urinary incontinence, Tapered finger, Carious t...	OMIM:620070
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin...	OMIM:136140
Alzheimer Disease 2	Neurofibrillary tangles, Dementia	OMIM:104310
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism...	OMIM:617159
Lateral Meningocele Syndrome	Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen...	ORPHA:2789
Restrictive Dermopathy 1	Ureteral duplication, Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long b...	OMIM:275210
Adrenoleukodystrophy	Alopecia, Urinary incontinence, Primary adrenal insufficiency, Limb ataxia, Impotence, Hypogonadi...	OMIM:300100
Activated Pi3K-Delta Syndrome	Microcephaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, Failure to thrive	ORPHA:397596
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Ankle flexion contracture, Tapered finger, Unilateral renal agenesis, Cryptorchidism...	ORPHA:464311
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Joint laxity, Juvenile myelomonocytic leukemia, Highly arched eyebrow, Short neck, Cryptorchidism...	OMIM:613563
Immunodeficiency 64 With Lymphoproliferation	Mediastinal lymphadenopathy, Cervical lymphadenopathy, Splenomegaly, Lymphadenopathy, Hepatosplen...	OMIM:618534
Familial Tumoral Calcinosis	Hyperostosis	ORPHA:53715
Gerstmann-Straussler Disease	Neurofibrillary tangles, Limb ataxia, Gait ataxia, Dementia, Truncal ataxia, Memory impairment	OMIM:137440
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia...	ORPHA:453533
9Q31.1Q31.3 Microdeletion Syndrome	Mandibular prognathia, Thick hair, Highly arched eyebrow, Tapered finger, Cervical kyphosis, Shor...	ORPHA:401923
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism	ORPHA:36913
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Toluene Embryopathy	Tapered finger, Micrognathia, Cryptorchidism, Abnormal localization of kidney, Hypoplasia of the ...	ORPHA:1920
Mandibulofacial Dysostosis With Alopecia	Alopecia, Hydroureter, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypopla...	OMIM:616367
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, He...	OMIM:259730
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Supernumerary tooth, Sparse hair, Uncombable hair, Short 5th metacarpal,...	ORPHA:1264
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Prominent metopic ridg...	OMIM:130650
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hashimoto th...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope...	ORPHA:227990
Alzheimer Disease, Familial, 1	Neurofibrillary tangles, Dementia	OMIM:104300
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Short neck, De...	OMIM:614800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Con...	ORPHA:373
Localized Scleroderma	Skeletal muscle atrophy, Abnormal skin adnexa morphology, Abnormality of the kidney, Flexion cont...	ORPHA:90289
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs...	ORPHA:2273
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Splenome...	OMIM:276700
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Parkinson Disease 23, Autosomal Recessive Early-Onset	Neurofibrillary tangles, Dementia, Mental deterioration, Akinesia	OMIM:616840
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Accelerated skeletal maturation, Renal...	ORPHA:90795
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Rocker bottom foot, Tapered finger, Cryptorchidism, Absent axillary hair, Finger c...	OMIM:601353
Leprechaunism	Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Clitoral hypertrophy, Overgrowth of exte...	ORPHA:508
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Elbow contracture, Tarsal synostosis, Craniosynostosis, Multip...	OMIM:178110
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Vaginal dryness, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Hypospadias, Hypoplasi...	OMIM:106260
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Pedal edema, Abnormal vertebral morphology, Ataxia, Porta...	ORPHA:284
Noonan Syndrome 5	Mandibular prognathia, Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Fine hair, Small n...	OMIM:611553
Muenke Syndrome	Hypopigmentation of hair, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpa...	ORPHA:53271
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Cardi...	ORPHA:3472
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Progressive gait...	ORPHA:191
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormality of the spleen, Abnormal finger morphology, Abnormal ...	ORPHA:2538
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph...	ORPHA:444077
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Lymphopenia, Myelitis	OMIM:301080
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of...	ORPHA:84
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,...	OMIM:612843
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Decreased fertility, H...	OMIM:234050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:619260
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Localized Junctional Epidermolysis Bullosa	Dental enamel pits, Abnormality of dental color, Limb joint contracture, Sparse axillary hair, Sp...	ORPHA:251393
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Alopecia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Increased circulating...	OMIM:615830
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Micrognathia, Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Hammertoe, Cervix c...	OMIM:620189
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Slow-growing hair, Rocker bottom foot, Highly arched eye...	OMIM:272950
Sapho Syndrome	Hyperostosis, Craniofacial osteosclerosis, Osteolysis	ORPHA:793
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Wormian bones, Genu recurvatum, Delayed cranial suture clos...	ORPHA:90348
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint laxity, Joint dislocation, Wide nasal bridge, Short clavicles, Short 4th...	OMIM:606220
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepati...	OMIM:304790
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Hypospad...	ORPHA:96176
Chime Syndrome	Abnormality of the kidney, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of the phal...	ORPHA:3474
Bartter Syndrome, Type 2, Antenatal	Osteopenia, Triangular face, Abnormally large globe	OMIM:241200
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Thin nail, External genital hypoplasia, Abnormal hair morphology, Short toe, Palmar hyp...	OMIM:242100
Blau Syndrome	Camptodactyly of finger, Splenomegaly, Xerostomia, Synovitis, Lymphadenopathy, Joint swelling, Po...	ORPHA:90340
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Abnormal brainstem morphology, Dysmetria, Abnormality of masticatory mus...	ORPHA:98755
Mast Cell Sarcoma	Weight loss, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Trichohepatoenteric Syndrome 1	Curly hair, Hepatomegaly, Brittle hair, Hypospadias, Thrombocytosis, Increased mean platelet volu...	OMIM:222470
Sarcoidosis	Alopecia, Lymphadenopathy, Abnormal lymph node morphology, Joint swelling, Weight loss, Chylothor...	ORPHA:797
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Adrenomyeloneuropathy	Back pain, Urinary incontinence, Dorsal column degeneration, Urinary bladder sphincter dysfunctio...	ORPHA:139399
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ...	ORPHA:1359
Pfapa Syndrome	Splenomegaly, Arthritis, Weight loss, Lymphadenopathy	ORPHA:42642
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Thick eyebrow, Highly arched eyebrow, Wide nasal bridge, Low posterior hairline, Scol...	OMIM:617360
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Micrognathia, Sparse eyebrow, Wide nasal bridge, Hydrocele testis, Mi...	OMIM:618810
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Rocker bottom foot, Wide nasal bridge, Hypoplastic spleen, Adducted thumb	ORPHA:89844
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Alopecia, Macrocytic anemia, Ataxia, Osteoporosis, Thyroiditis, Ri...	OMIM:212750
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Arthritis, Lymphadenopathy	OMIM:617772
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair, Pes planus, Facial palsy, Distal amyotrophy, Steppage gait, Areflexia of lower limbs,...	OMIM:256850
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairline, Tapered ...	OMIM:613458
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Acropectorovertebral Dysplasia	Finger syndactyly, Tarsal synostosis, Camptodactyly of finger, Spina bifida, Triphalangeal thumb,...	ORPHA:957
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Macrocephaly, Cubitus valgus, Hypertrichosis	OMIM:619750
Aymé-Gripp Syndrome	Sparse scalp hair, Prominent metopic ridge, Proteinuria, Rocker bottom foot, Congenital diaphragm...	ORPHA:1272
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Hypospadias, Sagittal craniosynostosis, Sparse eyebrow, Rect...	OMIM:603116
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Long fi...	OMIM:617527
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Palmoplantar keratoderma, Fingernail dysplasia,...	ORPHA:2309
Giant Cell Arteritis	Alopecia, Ataxia, Anorexia, Mediastinal lymphadenopathy, Weight loss, Depression, Arthritis	ORPHA:397
Classical Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Abnormality of the temporomandibular joint, Phalangeal dislocation, Abnor...	ORPHA:287
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Optic atrophy, Cochlear degeneration, Hearing impairment	ORPHA:95433
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Ketonuria, Hyperglycinuria, Organic aciduria, Lethargy, Failure to thrive	OMIM:210210
Congenital Ichthyosiform Erythroderma	Failure to thrive, Alopecia, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:79394
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Renal cyst, Tibial bowing, Hepatoblastoma, Micropenis, Myeloid leukemia...	ORPHA:798
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Neutropenia, Hypothyroidism, Alop...	ORPHA:37042
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Hypoplasia of the ova...	OMIM:619321
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Holoprosencephaly	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Syno...	ORPHA:2162
Morgagni-Stewart-Morel Syndrome	Osteoporosis, Hyperostosis frontalis interna, Cognitive impairment, Memory impairment, Hirsutism	ORPHA:77296
Lennox-Gastaut Syndrome	Falls, Abnormal brainstem morphology	ORPHA:2382
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Recurrent respiratory infections, Arachnodactyly, Congenital diaphragmatic hernia, ...	OMIM:219100
Warburg-Cinotti Syndrome	Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ...	OMIM:618175
Zttk Syndrome	Absent gallbladder, Curly hair, Broad eyebrow, Unilateral lung agenesis, Polyuria, Craniosynostos...	OMIM:617140
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Pili torti	ORPHA:1573
Pallister-Killian Syndrome	Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Congenital diaphragma...	OMIM:601803
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Brittle hair, Hypospadias, Flexion contracture, Generalized limb muscle atrophy...	OMIM:618891
Wilson Disease	Acute hepatic failure, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypoparathy...	OMIM:277900
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Wide nasal bridge, Chronic hepatitis, Uncombable hair, Cirrhosis, Spa...	OMIM:614602
Cardiofaciocutaneous Syndrome 4	Joint laxity, Absent eyebrow, Curly hair, Sparse eyelashes, Decreased response to growth hormone ...	OMIM:615280
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ...	ORPHA:521426
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Hypop...	ORPHA:319171
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Flexion contracture, Palmoplantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Spars...	OMIM:242300
Bathing Suit Ichthyosis	Autoamputation of digits, Alopecia, Multiple joint contractures, Palmoplantar hyperkeratosis, Nai...	ORPHA:100976
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Short 3rd toe, Tapered finger, Short thumb, Split hand, Low anterior hairline, Wide nas...	OMIM:618569
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Flexion contracture, Short nose, Fine hair, Fragile nails, Hypogonad...	OMIM:601675
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Ataxia, Myopathy, Hepatic steatosis	OMIM:275630
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Hypopla...	OMIM:311900
Immunodeficiency 52	Splenomegaly, Failure to thrive, Lymphadenopathy	OMIM:617514
Okamoto Syndrome	Abnormally large globe, Extension of hair growth on temples to lateral eyebrow, Wide nasal bridge...	ORPHA:2729
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol...	OMIM:276820
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Delayed closure of the anterior fontanelle, T...	OMIM:127000
Keutel Syndrome	Recurrent respiratory infections, Alopecia, Pulmonary artery stenosis, Recurrent sinusitis, Short...	ORPHA:85202
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Hypertrichosis, W...	OMIM:619479
Caffey Disease	Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin...	OMIM:114000
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph...	ORPHA:416
Meckel Syndrome, Type 1	External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia, Short neck, Ambiguous ge...	OMIM:249000
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone c...	OMIM:218700
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Memory impairment, Dementia	OMIM:606688
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Hutchinson-Gilford Progeria Syndrome	Alopecia, Micrognathia, Osteolysis, Malar flattening, Generalized osteoporosis	OMIM:176670
Mu-Heavy Chain Disease	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:100024
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Hyperlordosis, Supernumerary tooth, F...	ORPHA:3353
Distal Deletion 19P	Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Hypoplasia of the maxilla, Joint hyperflexibi...	ORPHA:96129
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Clubbing of fingers, Lymphadenopathy	OMIM:618982
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Abnormal salivary gland morphology, Nephrit...	ORPHA:2298
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal...	OMIM:618454
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Recurrent fractures, Splenomegaly, Delayed skeletal matura...	OMIM:222700
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Hyperthyroidism, Accelerated skeletal maturation, In...	OMIM:609152
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Renal cys...	OMIM:113620
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Micrognathia, Hypoplasia o...	ORPHA:861
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Waddling gait, Pes planus, Kyphoscoliosis, Atlantoaxial inst...	OMIM:614557
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Edema, Lymphadenopathy	OMIM:603552
Floating-Harbor Syndrome	Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, ...	ORPHA:2044
Phakomatosis Pigmentokeratotica	Rhabdomyosarcoma, Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carci...	ORPHA:2874
Holocarboxylase Synthetase Deficiency	Alopecia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaleric a...	OMIM:253270
Ulnar-Mammary Syndrome	Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas...	OMIM:181450
Meacham Syndrome	Accessory spleen, Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism,...	OMIM:608978
Tetrasomy 9P	Joint dislocation, Myositis, Micrognathia, Short neck, Biliary atresia, Clinodactyly of the 5th f...	ORPHA:3310
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular...	ORPHA:276399
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom...	ORPHA:733
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Paronychia, Weight loss, Ridged fin...	ORPHA:37
Marshall Syndrome	Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Osteoarthritis, Hypopl...	ORPHA:560
Lichen Planopilaris	Alopecia, Onycholysis, Abnormal fingernail morphology, Pterygium	ORPHA:525
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Gait disturbance, ...	ORPHA:88628
Meige Disease	Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem...	ORPHA:90186
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Absent peripheral lymph nodes in presence of infection, Pedal edema, Nail dystroph...	ORPHA:98813
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Delayed cranial suture closure, Wide anterior f...	ORPHA:90349
Noonan Syndrome 6	Curly hair, Juvenile myelomonocytic leukemia, Long eyebrows, Short neck, Cryptorchidism, Wide nas...	OMIM:613224
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Calvarial hyperostosis, Frontotemporal dementia, Osteolysis, Waddling gait	ORPHA:52430
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Hypospadias, Micrognathia, Phimosis, Renal hypoplasia, Narro...	OMIM:309500
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia, Aggressive behavior	OMIM:247100
Carvajal Syndrome	Woolly hair, Patchy palmoplantar hyperkeratosis	ORPHA:65282
Trichothiodystrophy 8, Nonphotosensitive	Sparse eyebrow, Ankle clonus, Sparse hair, Woolly hair, Retrognathia, Trichorrhexis nodosa	OMIM:619691
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:444463
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Short fourth metatarsal, Anterior pituitary hypoplasia, Single transverse ...	OMIM:619841
Hutchinson-Gilford Progeria Syndrome	Micrognathia, Osteoarthritis, Reduced bone mineral density, Avascular necrosis, Dystrophic finger...	ORPHA:740
Pseudomyxoma Peritonei	Weight loss, Ascites, Lymphadenopathy	ORPHA:26790
Proteasome-Associated Autoinflammatory Syndrome 2	Periorbital edema, Lymphadenopathy, Clinodactyly, Failure to thrive, Brachydactyly	OMIM:618048
Noonan Syndrome 8	Curly hair, Short neck, Cryptorchidism, Palmoplantar cutis laxa, Left ventricular hypertrophy, Pl...	OMIM:615355
Cinca Syndrome	Joint dislocation, Delayed closure of the anterior fontanelle, Edema, Splenomegaly, Abnormal join...	ORPHA:1451
Joubert Syndrome 2	Renal insufficiency, Ataxia, Brainstem dysplasia, Abnormal foot morphology, Postaxial hand polyda...	OMIM:608091
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per...	ORPHA:206443
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Curly hair, Single transverse palmar crease, Kyphoscoliosis, Sparse eyebrow, Synophrys, Hyposegme...	OMIM:620075
Leopard Syndrome 2	Mandibular prognathia, Curly hair, Cubitus valgus, Short neck	OMIM:611554
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Congenital hip dislocation, Thoracic scoliosis, Single transverse pa...	ORPHA:508488
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Cranial hyperostosis, Gait disturbance	ORPHA:457240
Chromosome 6Pter-P24 Deletion Syndrome	Joint laxity, Broad toe, Rocker bottom foot, Short neck, Short 2nd toe, Hip dysplasia, Frontal up...	OMIM:612582
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
X-Linked Cerebral Adrenoleukodystrophy	Decreased circulating cortisol level, Ataxia, Inability to walk, Myelopathy, Abnormal spinal cord...	ORPHA:139396
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Optic atrophy	OMIM:616881
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Activating ...	ORPHA:424
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Red...	ORPHA:370959
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Mitten deformity, Enamel hypoplasi...	OMIM:226600
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Hypoplasia of teeth,...	ORPHA:2728
Woodhouse-Sakati Syndrome	Osteopenia, Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growt...	ORPHA:3464
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Nail pits, Patchy alopecia, Nail dystrophy, Fingernail dysp...	ORPHA:79153
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Orofaciodigital Syndrome Type 3	Abnormality of hair texture, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Postaxia...	ORPHA:2752
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Recurrent fractures, Persistence of primary teeth, Micrognathia, Thro...	ORPHA:2785
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Retrognathia, Abnormal brainstem morphology, Micrognathia	ORPHA:163961
Cardiofaciocutaneous Syndrome 3	Curly hair, Short neck, Scoliosis, Reduced bone mineral density	OMIM:615279
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Distal amyotrophy, Gait disturbance, Abnormal spinal cord morphology	ORPHA:139578
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Immunodeficiency 7	Splenomegaly, Failure to thrive, Patchy alopecia, Lymphadenopathy	OMIM:615387
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Memory impairment	OMIM:608907
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Micronodular cirrhosis, Myopathy, ...	ORPHA:98907
Alzheimer Disease 4	Neurofibrillary tangles, Memory impairment, Dementia, Cognitive impairment	OMIM:606889
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte...	OMIM:201750
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Keppen-Lubinsky Syndrome	Abnormally large globe	OMIM:614098
Marfan Syndrome	Osteopenia, Osteoporosis, Increased axial length of the globe, Attention deficit hyperactivity di...	ORPHA:558
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells...	ORPHA:169154
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Ankle flexion contracture, Abnormal fear-induced behavior, Depression, Agitation, D...	ORPHA:100924
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Hepatomegaly, Femur fracture, Splenomegaly, Recurrent pneumo...	OMIM:612301
Mevalonic Aciduria	Ataxia, Failure to thrive in infancy, Edema, Fluctuating splenomegaly, Microcephaly, Lymphadenopa...	OMIM:610377
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Palmoplantar keratoderma, Woolly hair	ORPHA:34217
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Ulnar deviation of the hand, Elbow contracture, Camptodac...	OMIM:208150
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili...	ORPHA:3265
Charge Syndrome	Bifid scrotum, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Abnormality of bone...	ORPHA:138
Wiskott-Aldrich Syndrome	Hyperostosis	ORPHA:906
Arima Syndrome	Brainstem dysplasia, Hypoplasia of the brainstem, Hepatic fibrosis, Nephronophthisis, Molar tooth...	OMIM:243910
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormal palmar dermatoglyphics, Microcephaly, Nail dystrophy, Dyspha...	OMIM:620040
Noonan Syndrome 7	Curly hair, Short neck, Low posterior hairline, Deep palmar crease, Scoliosis, Cubitus valgus, Jo...	OMIM:613706
Rhabdoid Tumor	Irritability, Weight loss, Lymphadenopathy	ORPHA:69077
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Wide nasal bridge, Buphthalmos, Short nose, Hirsutism	OMIM:618005
Hypocomplementemic Urticarial Vasculitis	Joint dislocation, Ataxia, Pericardial effusion, Splenomegaly, Angioedema, Lymphadenopathy, Arthr...	ORPHA:36412
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Increased axial length of the globe, Sparse lateral eyebrow, Gait ataxia	ORPHA:513456
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Abnormal brainstem morphology, Generalized amyotrophy	ORPHA:79279
Olmsted Syndrome 1	Subungual hyperkeratosis, Autoamputation of digits, Palmoplantar keratoderma, Nail dystrophy, Nai...	OMIM:614594
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Alopecia, Autoimmune hemolytic anemia, Recurrent pneumonia, B...	OMIM:616576
Caspase 8 Deficiency	Splenomegaly, Failure to thrive, Lymphadenopathy	OMIM:607271
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Palmoplantar keratoderma, Sparse hair, Failure to thrive, Fragile nails	OMIM:242150
Joubert Syndrome 1	Ataxia, Brainstem dysplasia, Highly arched eyebrow, Elongated superior cerebellar peduncle, Posta...	OMIM:213300
Keppen-Lubinsky Syndrome	Abnormally large globe	ORPHA:435628
Chronic Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Sensorineural hearing impairment, Abnormal auditory evoked potentials	ORPHA:529799
Kikuchi-Fujimoto Disease	Alopecia, Generalized lymphadenopathy, Ataxia, Palpebral edema, Anorexia, Splenomegaly, Cervical ...	ORPHA:50918
Trichothiodystrophy 3, Photosensitive	Natal tooth, Brittle hair, Bilateral cryptorchidism, Carious teeth, Abdominal adhesions, Neutrope...	OMIM:616395
Autoimmune Polyendocrinopathy Type 2	Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy...	ORPHA:3143
Lipodystrophy, Congenital Generalized, Type 1	Mandibular prognathia, Accelerated skeletal maturation, Hepatic steatosis, Hepatomegaly, Generali...	OMIM:608594
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Palmoplantar keratoderma, Alopecia totalis	ORPHA:1366
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Skeletal muscle atrophy, Dry hair, Hepatomegaly, Renal insufficien...	ORPHA:90324
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Craniosynostosis, Bilateral cryptorchidism, Sparse eyebrow, W...	OMIM:613451
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Decreased propor...	OMIM:606367
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Toe syndactyly, Ambiguous genitalia, Camptodactyly of finger...	ORPHA:920
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Pes planus, Hypospadias, Diastasis recti, Cryptorchidism, Gait disturbance	ORPHA:457485
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Multinodular goiter, Palmoplantar keratoderma, Nail dystrophy, Alopecia of scalp	OMIM:618373
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Single transverse palmar crease, Highly arched eyebrow, Supernumerary tooth, Synoph...	OMIM:617412
Spinal Arteriovenous Metameric Syndrome	Abnormality of the kidney, Kyphoscoliosis, Abnormal spinal cord morphology, Bone pain, Spinal art...	ORPHA:53721
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Stiff neck, Urinary incontinence, Areflexia of...	ORPHA:268882
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Craniosynostosis, Prominent scrotal raphe, Cryptorchidism, Abnormality of the panc...	ORPHA:1555
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Precocious puberty, Hypoplasia of the pons, Anterior hypopituitaris...	ORPHA:280195
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Abnormality of the pancreas, White hair, Fine hair, Reduced bon...	ORPHA:935
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Micrognathia, Asplenia, Abnormal lung lobation, Hypospadias, Pulmonary artery stenosis, Partial a...	OMIM:265380
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Myelofibrosis, Joint laxity, Curly hair, Sparse scalp hair, Duplicated collecting system, Short n...	OMIM:607721
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Sparse hair, Hypothyroidism, B...	OMIM:620186
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ...	OMIM:613406
Marbach-Rustad Progeroid Syndrome	Femur fracture, Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Er...	OMIM:619322
Neurodegeneration With Brain Iron Accumulation 2B	Short attention span, Neurofibrillary tangles, Dysmetria, Gait ataxia, Dysdiadochokinesis, Mental...	OMIM:610217
Alström Syndrome	Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation...	ORPHA:64
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Edema, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Irritability, Failure to thrive...	OMIM:603553
Gangliocytoma	Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent...	ORPHA:251937
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk...	OMIM:308205
Omenn Syndrome	Alopecia, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Failure to thrive	OMIM:603554
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	OMIM:300853
Fetal Akinesia Deformation Sequence 3	Talipes, Rocker bottom foot, Short neck, Micrognathia, Overlapping fingers	OMIM:618389
Cree Mental Retardation Syndrome	Bifid scrotum, Hypospadias, Rocker bottom foot, Micrognathia, Cryptorchidism, Cutaneous finger sy...	OMIM:606851
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Failure to thrive, Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Tularemia	Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy, Cervical lymphadenopathy...	ORPHA:3392
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c...	OMIM:160980
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Dementia, Ataxia	OMIM:117300
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ...	OMIM:609136
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Splenomegaly, Lymphadenopathy, Irritability, Failure to thrive, Generalized edema	OMIM:267700
Leopard Syndrome 3	Curly hair, Short neck, Delayed skeletal maturation, Low posterior hairline, Cubitus valgus	OMIM:613707
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Sparse...	OMIM:218040
Noonan Syndrome 2	Curly hair, Micrognathia, Sparse eyebrow, Cryptorchidism, Cubitus valgus, Short neck, Low posteri...	OMIM:605275
Bloom Syndrome	Syndactyly, Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, De...	OMIM:210900
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Congenital diaphragmatic hernia, Micromelia, Short neck...	OMIM:616546
Juvenile Paget Disease	Cranial hyperostosis, Osteoporosis, Coarse metaphyseal trabecularization	ORPHA:2801
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Ectopic kidney, Sparse eye...	ORPHA:634
Biotinidase Deficiency	Hepatomegaly, Alopecia, Ataxia, Splenomegaly, Organic aciduria, Lethargy	OMIM:253260
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias...	OMIM:259900
Syndromic Diarrhea	Hepatomegaly, Hypopigmentation of hair, Brittle hair, Peripheral pulmonary artery stenosis, Hepat...	ORPHA:84064
Trichodental Dysplasia	Brittle hair, Odontodysplasia, Slow-growing hair, Fine hair, Sparse hair	OMIM:601453
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplastic sweat glan...	OMIM:601345
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit...	ORPHA:3342
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Hypothyroidism, Broad thumb, Brachy...	OMIM:617763
Niemann-Pick Disease, Type C1	Neurofibrillary tangles, Dementia, Ataxia, Gait ataxia	OMIM:257220
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Uterine rupture, Alopecia, Hypospa...	ORPHA:286
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Sparse eyebrow, Secondary microcephaly, Failure to thrive	OMIM:610768
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Pes planus, Hypospadias, R...	ORPHA:163979
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology	ORPHA:255182
Centrifugal Lipodystrophy	Lymphadenitis, Alopecia	ORPHA:90156
Pelvis-Shoulder Dysplasia	Back pain, Congenital hip dislocation, Hypoplastic scapulae, Lumbar hyperlordosis, Hypoplastic il...	OMIM:169550
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Finger syndactyly, Renal insufficiency, Sparse axillary hair, Unilateral r...	OMIM:181270
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Xeroderma Pigmentosum	Craniofacial hyperostosis, Alopecia, Ataxia, Cryptorchidism, Delayed skeletal maturation, Aminoac...	ORPHA:910
Deafness-Lymphedema-Leukemia Syndrome	Lymphedema, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:3226
Limb-Mammary Syndrome	Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Sparse eyebrow, 3-4 finger cutaneous syndact...	ORPHA:69085
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Lymphadenopathy	OMIM:615513
Immunodeficiency 91 And Hyperinflammation	Edema, Lymphadenopathy, Hepatosplenomegaly, Pleural effusion, Failure to thrive	OMIM:619644
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar kerato...	ORPHA:79395
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp...	ORPHA:2473
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Postaxial polydactyly, Splenomegaly, Supernumerary tooth, Postaxial hand polydactyl...	OMIM:617088
Trisomy 8P	Conductive hearing impairment, Abnormal middle ear morphology, Posteriorly rotated ears, Aplasia/...	ORPHA:264450
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Desmoplastic Small Round Cell Tumor	Cachexia, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Ascites	ORPHA:83469
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Failure to thrive in infancy	OMIM:618987
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Nephrogenic diabetes insipidus, Carious teeth, Supernumerary tooth, Limitation of j...	ORPHA:3145
Viss Syndrome	Micrognathia, Generalized joint laxity, Emphysema, Hypothyroidism, Microretrognathia, Long toe, J...	OMIM:619472
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Vestibular areflexia	ORPHA:3240
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Mandibular prognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Hydro...	OMIM:613603
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Pes planus, Abnormality of hair texture, Hypoplasia of the pons, A...	ORPHA:88618
Cinca Syndrome	Lymphedema, Patellar overgrowth, Hepatosplenomegaly, Lymphadenopathy, Arthritis	OMIM:607115
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Weight loss, Lymphadenopathy	ORPHA:411703
Leishmaniasis	Splenomegaly, Weight loss, Anorexia, Lymphadenopathy	ORPHA:507
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Palmoplantar hyperkeratosis	OMIM:300918
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Non-medullary thy...	ORPHA:273
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i...	ORPHA:101085
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Noonan Syndrome 9	Curly hair, Hydroureter, Short neck, Sparse eyebrow, Cryptorchidism	OMIM:616559
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Abnormal dental enamel morphology, Hyperconvex fingernails, Myopathy, Hypoplastic finge...	ORPHA:257
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal maturation, Ve...	OMIM:157800
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Olmsted Syndrome 2	Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Flexion contracture of digit, Sparse hair,...	OMIM:619208
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia,...	ORPHA:2166
Infantile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph...	ORPHA:206436
Japanese Encephalitis	Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Stiff neck, Abnormal...	ORPHA:79139
Adult Krabbe Disease	Broad-based gait, Abnormal medulla oblongata morphology, Ataxia, Abnormal midbrain morphology, Ur...	ORPHA:206448
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Emphysema, Absent gallbladder...	ORPHA:500150
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci...	OMIM:602400
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus	Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Short 5th finger...	OMIM:133705
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Abnormal brainstem morphology	ORPHA:300573
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Multiple impacted teeth, Short clavicles, Type E brachydactyl...	OMIM:113300
Leprosy	Skeletal muscle atrophy, Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the s...	ORPHA:548
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Megaloblastic anemia, Abnormality of hair texture, Athetosis, Hypogonadism, Adducted thumb	ORPHA:79351
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Joint laxity, Arachnodactyly, Osteoporosis, Scoliosis, Uteri...	ORPHA:284984
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Supranuclear Palsy, Progressive, 2	Akinesia, Neurofibrillary tangles, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia	OMIM:609454
Hyperostosis Cranialis Interna	Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyperostosis cranialis interna	OMIM:144755
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Arthritis, Lymphadenopathy	OMIM:611762
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Microcephaly, Weight loss, Arthritis, Gait disturbance, Chro...	ORPHA:420741
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Short metacarpal, Toe syndactyly, Ambiguous genitalia, Absent eyelashes, Hypoplas...	OMIM:200110
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Failure to thrive, Lymphadenopathy	OMIM:618495
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Memory impairment, Progressive language deterioration, Frontotemporal de...	OMIM:607485
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	OMIM:613101
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Multiple Synostoses Syndrome 4	Pes planus, Otosclerosis, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Kaposi Sarcoma	Weight loss, Abnormality of the spleen, Generalized lymphadenopathy, Lymphedema	ORPHA:33276
Tarsal-Carpal Coalition Syndrome	Abnormality of the ankle, Tarsal synostosis	ORPHA:1412
Adult-Onset Autosomal Dominant Leukodystrophy	Orthostatic hypotension, EEG with generalized slow activity, Abnormal auditory evoked potentials,...	ORPHA:99027
Autosomal Dominant Hypocalcemia	Alopecia, Abnormal fingernail morphology, Hypercalciuria, Reduced bone mineral density, Nephrocal...	ORPHA:428
Aggressive Systemic Mastocytosis	Anorexia, Hypersplenism, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Ascites	ORPHA:98850
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena...	ORPHA:3453
Cutaneous Mastocytoma	Peau d'orange, Angioedema, Lymphadenopathy	ORPHA:79455
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlar...	ORPHA:79078
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll...	OMIM:616099
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm...	ORPHA:171929
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Encephalocraniocutaneous Lipomatosis	Alopecia, Cryptorchidism, Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis	OMIM:613001
Immunodeficiency 76	Splenomegaly, Lymphadenopathy	OMIM:619164
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Abnormal fingernail morphology, Micrognathia, Adactyly, Split h...	ORPHA:989
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal fingernail morphology, Abnormal ...	ORPHA:1028
Iniencephaly	Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Renal agenesis, Spina bifida, Hy...	ORPHA:63259
Craniometaphyseal Dysplasia, Autosomal Dominant	Sclerosis of skull base, Cranial hyperostosis, Calvarial osteosclerosis	OMIM:123000
Noonan Syndrome 10	Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Scoliosis, Palmoplantar cutis laxa, Left ...	OMIM:616564
Duplication Of The Pituitary Gland	Thoracic scoliosis, Abnormal odontoid process morphology, Abnormality of joint mobility, Abnormal...	ORPHA:314621
Felty Syndrome	Splenomegaly, Abnormal joint morphology, Synovitis, Lymphadenopathy, Weight loss, Arthritis, Bone...	ORPHA:47612
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Abnormal brainstem MRI signal intensity, Ina...	ORPHA:254930
Progressive Non-Fluent Aphasia	Neurofibrillary tangles, Memory impairment, Mental deterioration, Frontotemporal dementia	ORPHA:100070
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Distal lower limb amyotrophy, Alopecia, Craniosynostosis, Anemia, Palmoplantar keratoderma, Nail ...	ORPHA:79396
Griscelli Syndrome Type 2	Premature graying of hair, Splenomegaly, Hypopigmentation of hair, Lymphadenopathy	ORPHA:79477
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Stiff neck, Facial palsy, Pneumonia, Ataxia, Respiratory tract in...	ORPHA:68
Liver Disease, Severe Congenital	Dry hair, Micrognathia, Biliary hyperplasia, Cardiomegaly, Leukopenia, Aminoaciduria, Lymphocytos...	OMIM:619991
Trichotillomania	Hair-pulling, Alopecia, Compulsive behaviors	OMIM:613229
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con...	ORPHA:90321
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Abnormality of the temporomandibular joint, Myositis, Absent muscle fiber merosin, Facial palsy, ...	ORPHA:258
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Carious teeth, Hypoplasia of the zygomatic bone, Abnormal hip bone morphol...	ORPHA:1110
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Cryptorchidism, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, B...	OMIM:619244
Charcot-Marie-Tooth Disease Type 4B2	Buphthalmos, Inability to walk, Tip-toe gait, Difficulty walking	ORPHA:99956
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Elongated superior cerebellar peduncle, Ataxia, Abnormal brainstem morphology	ORPHA:370022
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Wide nasal bridge, Thin eyebrow	OMIM:617392
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Weismann-Netter Syndrome	Calvarial hyperostosis	OMIM:112350
Enlarged Parietal Foramina	Broad thumb, Short clavicles, Craniosynostosis	ORPHA:60015
Tubulinopathy-Associated Dysgyria	Hypoplasia of the pons, Ataxia, Abnormal brainstem morphology	ORPHA:467166
Immunodeficiency, Common Variable, 10	Trachyonychia, Decreased response to growth hormone stimulation test, Alopecia totalis, Recurrent...	OMIM:615577
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Retrognathia, Fibular ...	OMIM:165590
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node h...	OMIM:602450
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Hepatosplenomegaly, Failure to th...	ORPHA:911
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Alopecia, Pancytopenia, Phimosis, Urinary bladder inflammation, Fl...	ORPHA:99921
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Ataxia, Elevated circulating aspartate aminotransferase con...	OMIM:207900
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Primary Myelofibrosis	Anorexia, Cachexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Short neck, Sc...	OMIM:616038
Limb Body Wall Complex	Duplication of hand bones, Broad hallux, Diastasis recti, Congenital diaphragmatic hernia, Aplasi...	ORPHA:2369
Biotinidase Deficiency	Alopecia, Ataxia, Myelopathy, Organic aciduria, Lethargy, Limb muscle weakness	ORPHA:79241
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Lymphoproliferative Syndrome 2	Splenomegaly, Ascites, Lymphadenopathy, Hepatosplenomegaly	OMIM:615122
Acute Monoblastic/Monocytic Leukemia	Ankle swelling, Anorexia, Periorbital edema, Cervical lymphadenopathy, Weight loss	ORPHA:514
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Hyperimmunoglobulinemia D With Periodic Fever	Arthritis, Ataxia, Lymphadenopathy	ORPHA:343
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Clinodactyly of the 5th finger, Hypoplasia of the zygomatic bone	ORPHA:3074
Waldenström Macroglobulinemia	Ataxia, Anorexia, Periorbital edema, Splenomegaly, Pedal edema, Lymphadenopathy, Pleural effusion	ORPHA:33226
Graft Versus Host Disease	Dupuytren contracture, Limited elbow movement, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Ir...	ORPHA:39812
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Macroglossia, Myopathy, Pleural effusion, Ascites, Enlarged kidney, Pulmonary edema	OMIM:261740
Xq21 Microdeletion Syndrome	Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro...	ORPHA:1435
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Tubulointerstitial nephritis, ...	ORPHA:289390
Supranuclear Palsy, Progressive, 1	Akinesia, Neurofibrillary tangles, Falls, Gait imbalance, Memory impairment, Frontolimbic dementia	OMIM:601104
Legionnaires Disease	Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:549
Restrictive Dermopathy 2	Microretrognathia, Overtubulated long bones, Hypoplastic facial bones, Short clavicles	OMIM:619793
Cowden Syndrome 7	Trichilemmoma, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditis, Goiter	OMIM:616858
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Weight loss, Abnormality of the lymphatic system, Abnormal lymph node morphology	ORPHA:54251
African Trypanosomiasis	Urinary incontinence, Choreoathetosis, Hepatomegaly, Alopecia, Abnormality of the endocrine syste...	ORPHA:3385
Proteasome-Associated Autoinflammatory Syndrome 3	Periorbital edema, Splenomegaly, Lymphadenopathy, Arthritis, Finger swelling, Failure to thrive	OMIM:617591
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Silver-gray hair, Splenomegaly, Lymphadenopathy, Gait disturbance	OMIM:214500
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, Impote...	ORPHA:93256
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h...	OMIM:269200
Bloom Syndrome	Bronchitis, Micrognathia, Paronychia, Male infertility, Decreased proportion of CD4-positive T ce...	ORPHA:125
Bleeding Disorder, Platelet-Type, 21	Alopecia	OMIM:617443
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplastic toenails, Hypoplasia of the zygomatic bone, Nail dysplasia, Malar flattening, Short nose	ORPHA:2835
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Alpha-Mannosidosis, Infantile Form	Osteopenia, Short attention span, Ataxia, Confusion, Craniosynostosis, Highly arched eyebrow, Cra...	ORPHA:309282
Juvenile Dermatomyositis	Calcinosis, Myositis, Alopecia, Limitation of joint mobility, Arthritis, Pulmonary fibrosis	ORPHA:93672
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Pedal edema, Lymphadenopathy, Clubbing of fing...	ORPHA:199241
Vater/Vacterl Association	Renal dysplasia, Syndactyly, Tethered cord, Hypospadias, Renal agenesis, Spina bifida, Ectopic ki...	OMIM:192350
Sting-Associated Vasculopathy, Infantile-Onset	Nailfold capillary tortuosity, Follicular hyperplasia, Paratracheal lymphadenopathy, Nail dystrop...	OMIM:615934
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic ...	OMIM:616084
Relapsing Polychondritis	Glomerulopathy, Alopecia, Renal insufficiency, Proteinuria, Atelectasis, Limitation of joint mobi...	ORPHA:728
Listeriosis	Back pain, Stiff neck, Osteomyelitis, Pneumonia, Ataxia, Liver abscess, Abnormal brainstem MRI si...	ORPHA:533
X-Linked Mandibulofacial Dysostosis	Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Abnormality of the pulmonary arte...	ORPHA:1131
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Sparse axillary hair, Lymphedema, Pericardial effusio...	ORPHA:2136
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Thin nail, Short nail, Sparse e...	OMIM:257980
Immunodeficiency, Common Variable, 1	Splenomegaly, Lymphadenopathy	OMIM:607594
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Laterally extended eyebrow, Synophrys, Low anterior hairline, Gait ataxia, Buphthalmos, Long eyel...	OMIM:618479
Chand Syndrome	Curly hair, Short fifth metatarsal, Ataxia, Hydroureter, Atelectasis, Agenesis of maxillary incis...	ORPHA:1401
Immunodeficiency, Common Variable, 8, With Autoimmunity	Generalized lymphadenopathy, Splenomegaly, Lymphadenopathy, Arthritis, Clubbing of fingers, Failu...	OMIM:614700
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Abnormal eyelash morphology, Bone cyst, Osteolysis, Osteocho...	ORPHA:2396
Meningioma	Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac...	ORPHA:2495
Niemann-Pick Disease, Type C2	Neurofibrillary tangles, Dementia, Ataxia	OMIM:607625
American Trypanosomiasis	Periorbital edema, Splenomegaly, Edema, Lymphadenopathy	ORPHA:3386
Superficial Siderosis	Back pain, Ataxia, Atrophy of the spinal cord, Abnormal spinal cord morphology, Unsteady gait, Fu...	ORPHA:247245
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Chédiak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Edema, Pericardial effusion, Inability to walk, Large clumps of...	ORPHA:167
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Concave nail, Aplasia/Hypoplastia ...	OMIM:305100
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Subungual hyperkeratosis, Curly hair, Cardio...	OMIM:601214
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Pleural ...	OMIM:618935
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Thyroid C cell hyperplasia	OMIM:300952
Glaucoma 3, Primary Congenital, A	Buphthalmos	OMIM:231300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Calvarial hyperostosis	OMIM:612714
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Lymphadenopathy...	ORPHA:160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Micrognathia, Cryptorchidism, Congenital contracture, Hypoplasia of the brainstem, Kinked brainst...	OMIM:236670
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Scrub Typhus	Splenomegaly, Lethargy, Lymphadenopathy	ORPHA:83317
Boutonneuse Fever	Abnormal skin morphology of the palm, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Pericardial effusion, Small for gestational age, Alopecia totalis	OMIM:618775
Pachyonychia Congenita 2	Natal tooth, Dry hair, Subungual hyperkeratosis, Sparse scalp hair, Sparse eyebrow, Palmoplantar ...	OMIM:167210
Cerebrotendinous Xanthomatosis	Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct...	ORPHA:909
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Art...	ORPHA:536
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy	ORPHA:98848
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair, Palmoplantar keratoderma	OMIM:611528
Lead Poisoning	Memory impairment, Attention deficit hyperactivity disorder, Cranial hyperostosis, Cognitive impa...	ORPHA:330015
Heme Oxygenase 1 Deficiency	Asplenia, Cervical lymphadenopathy, Lymphadenopathy	OMIM:614034
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Splenomegaly, Lymphadenopathy	OMIM:150550
Nephroblastoma	Weight loss, Lymphadenopathy	ORPHA:654
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Brittle hair, Genu recurvatum, Pes pla...	OMIM:619539
Papa Syndrome	Arthritis, Lymphadenopathy	ORPHA:69126
Peeling Skin Syndrome 1	Brittle hair, Eosinophilia, Onycholysis, Palmoplantar hyperhidrosis, Nail dystrophy	OMIM:270300
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Diffuse Cutaneous Mastocytosis	Peau d'orange, Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
Netherton Syndrome	Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Brittle scalp hair, Sparse eye...	OMIM:256500
Immunodeficiency 10	Nail dysplasia, Lymphadenopathy	OMIM:612783
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Weight loss, Lymphadenopathy, Hepatosplenomegaly	ORPHA:85450
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Norrie Disease	Buphthalmos, Microphthalmia, Dementia	OMIM:310600
Ethylmalonic Encephalopathy	Abnormal brainstem MRI signal intensity, Ataxia, Ethylmalonic aciduria	ORPHA:51188
Lymphoproliferative Syndrome 1	Pericardial effusion, Splenomegaly, Pleural effusion, Lymphadenopathy	OMIM:613011
Melkersson-Rosenthal Syndrome	Periorbital edema, Edema, Lymphadenopathy	ORPHA:2483
Autoimmune Lymphoproliferative Syndrome, Type Iia	Splenomegaly, Follicular hyperplasia, Chronic noninfectious lymphadenopathy, Lymphadenopathy	OMIM:603909
Acute Promyelocytic Leukemia	Weight loss, Addictive alcohol use, Anorexia, Lymphadenopathy	ORPHA:520
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Pulmonary artery stenosis, Talipes equinovarus, S...	OMIM:100300
Ectodermal Dysplasia-Skin Fragility Syndrome	Palmoplantar keratoderma, Nail dystrophy, Difficulty walking, Sparse hair, Failure to thrive, Alo...	ORPHA:158668
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Lymphadenopathy	OMIM:619375
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Ankle clonus, Failure to t...	OMIM:308230
Acute Interstitial Pneumonia	Pericardial effusion, Pleural effusion, Peripheral edema, Lymphadenopathy	ORPHA:79126
Linear Nevus Sebaceus Syndrome	Genu recurvatum, Alopecia, Adenoma sebaceum, Vertebral segmentation defect	ORPHA:2612
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Broad-based gait, Sparse eyebrow, Synophrys, Low anterior hairline, Buphthalmos, L...	ORPHA:495875
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Compulsive behaviors, Abnormal repetitive mannerisms, Syndactyly, Hyperactivity, ...	ORPHA:353277
Lymphoproliferative Syndrome, X-Linked, 1	Splenomegaly, Lymphadenopathy	OMIM:308240
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Unsteady gait, Midline brainstem cleft, Scoliosis	OMIM:617542
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Failure to thrive in infancy, Microcephaly, Absence of lymph node germinal center, Hepatosplenome...	ORPHA:79124
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Leukonychia, Palmoplantar keratoderma, Nail dystrophy, Woolly hair, Fragile nails	OMIM:615821
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia...	ORPHA:293987
Mend Syndrome	Abnormal auditory evoked potentials, Low-set ears	ORPHA:401973
Gamma-Heavy Chain Disease	Splenomegaly, Dysphagia, Rheumatoid arthritis, Lymphadenopathy	ORPHA:100026
Behçet Disease	Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Irritability, Gait distu...	ORPHA:117
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Broad hallux, Impulsivity, Aggressive behavior, Avascular necrosis of the capital ...	ORPHA:353281
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Lymphadenopathy, Nail dystrophy, Failure to thrive	OMIM:615895
Microphthalmia, Syndromic 1	Syndactyly, Hydroureter, Hypospadias, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Re...	OMIM:309800
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Gait disturbance, Abnormal brainstem morphology	ORPHA:88619
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Failure to thrive, Hypoplastic scapulae, Camptodactyly of finger, Sparse axillary ...	OMIM:256040
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of hair, Papillary...	ORPHA:363618
Developmental And Epileptic Encephalopathy 29	Hip dislocation, Rocker bottom foot	OMIM:616339
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Splenomegaly, Arthritis, Lymphadenopathy	OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Edema, Lymphadenopathy	OMIM:619183
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Brittle hair, Ataxia, Cholangitis, Microvesicular hepatic steatosi...	OMIM:124000
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly	OMIM:619802
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Hilar lymph node enlargement, Lethargy, Pleural effusion, Failure to...	OMIM:620233
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis	OMIM:249210
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Cold Agglutinin Disease	Splenomegaly, Lymphadenopathy	ORPHA:56425
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Aregenerative Anemia	Depression, Emotional lability, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:101096
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Back pain, Stiff neck, Abnormal medulla o...	ORPHA:297
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Q Fever	Anorexia, Pericardial effusion, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Weight loss, P...	ORPHA:781
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Buphthalmos	OMIM:251750
Brucellosis	Small for gestational age, Anorexia, Hypersplenism, Splenomegaly, Knee osteoarthritis, Lymphadeno...	ORPHA:1304
Drug Reaction With Eosinophilia And Systemic Symptoms	Angioedema, Weight loss, Lymphadenopathy	ORPHA:139402
Acute Disseminated Encephalomyelitis	Viral hepatitis, Ataxia, Abnormal brainstem MRI signal intensity, Abnormal spinal cord morphology...	ORPHA:83597
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Colchicine Poisoning	Renal insufficiency, Alopecia, Oliguria	ORPHA:31824
Revesz Syndrome	Abnormality of chromosome stability, Ataxia, Aplastic anemia, Nail pits, Fine hair, Nail dystroph...	OMIM:268130
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Agitation, Bone marrow hypo...	OMIM:615688
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail, Palmoplantar hyperkeratosis	OMIM:619209
Lymphatic Filariasis	Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Lymphadenitis, Knee osteoarthrit...	ORPHA:2035
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Abnormal brainstem MRI signal intensity, Right ventricular hypertrophy	ORPHA:444013
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Osteopenia, Buphthalmos, Sagittal craniosynostosis	OMIM:610199
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum	OMIM:618325
Coccidioidomycosis	Abnormality of the spleen, Mediastinal lymphadenopathy, Broad skull, Lymphadenopathy, Abnormal lo...	ORPHA:228123
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Failure to thrive in infancy, Microcephaly, Splenomegaly, Lymphadenopathy, Poly...	OMIM:619418
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:225250
Behcet Syndrome	Genital ulcers, Epididymitis, Arthritis, Patchy alopecia, Decreased level of D-mannose in urine	OMIM:109650
Macrophage Activation Syndrome	Splenomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy	ORPHA:158061
Aicardi-Goutieres Syndrome 7	Generalized lymphadenopathy, Edema, Microcephaly, Pericardial effusion, Splenomegaly, Weight loss...	OMIM:615846
Treacher Collins Syndrome 3	Malar flattening, Hypoplasia of the zygomatic bone, Micrognathia	OMIM:248390
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos	ORPHA:370997
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Recurrent respiratory infections, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Neonatal insulin-dependent ...	ORPHA:556955
Khan-Khan-Katsanis Syndrome	Buphthalmos, Short nose, Highly arched eyebrow, Trichiasis	OMIM:618460
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Gallbladder Neuroendocrine Tumor	Ascites, Chronic noninfectious lymphadenopathy, Anorexia, Weight loss	ORPHA:100086
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology	ORPHA:231160
Cushing Syndrome Due To Ectopic Acth Secretion	Sparse scalp hair, Anorexia, Neoplasm of the thymus, Increased body weight, Pedal edema, Abnormal...	ORPHA:99889
Klatskin Tumor	Weight loss, Lymphadenopathy	ORPHA:99978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Familial Pancreatic Carcinoma	Weight loss, Lymphadenopathy, Anorexia, Hepatosplenomegaly	ORPHA:1333
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Lymphangioleiomyomatosis	Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ...	ORPHA:538
Carney Triad	Mediastinal lymphadenopathy, Ascites, Anorexia, Lymphadenopathy	ORPHA:139411
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy	ORPHA:540
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Brittle hair, Absent nipple, Sparse hair, Absent hair	OMIM:614940
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Knee flexion contracture	OMIM:620232
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism	ORPHA:95712
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Anorexia, Pericardial effusion, Mediastinal lymphadenopathy, Splenom...	OMIM:181000
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy	ORPHA:169090
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Lymphadenopathy	ORPHA:436159
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Recurrent respiratory infections, Renal insufficiency, Sparse eyelashes, Prote...	OMIM:614748
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Plague	Edema, Anorexia, Lymphadenitis, Splenomegaly, Abnormality of the elbow, Unsteady gait, Enlarged m...	ORPHA:707
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Arthritis	OMIM:260920
Copper Deficiency, Familial Benign	Curly hair, Early balding, Anemia	OMIM:121270
Pancreatoblastoma	Weight loss, Abnormal lymph node morphology	ORPHA:677
Systemic Mastocytosis With Associated Hematologic Neoplasm	Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:98849
Multiple Myeloma	Splenomegaly, Pleural effusion, Weight loss, Lymphadenopathy	ORPHA:29073
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi	ORPHA:91495
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Immunodeficiency 98 With Autoinflammation, X-Linked	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	OMIM:301078
Treacher Collins Syndrome 2	Microretrognathia, Micrognathia, Fusion of middle ear ossicles, Hypoplasia of the zygomatic bone,...	OMIM:613717
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Malt Lymphoma	Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy	ORPHA:52417
Acute Generalized Exanthematous Pustulosis	Facial edema, Lymphadenopathy	ORPHA:293173
Ileal Neuroendocrine Tumor	Weight loss, Edema, Lymphadenopathy	ORPHA:100078
Adult-Onset Dystonia-Parkinsonism	Neurofibrillary tangles, Frontotemporal dementia	ORPHA:199351
Sympathetic Ophthalmia	Macular edema, Alopecia, Poliosis	ORPHA:79098
Familial Mediterranean Fever	Splenomegaly, Osteoarthritis, Pedal edema, Lymphadenopathy, Arthritis, Ascites	ORPHA:342
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Hypersplenism, Splenomegaly, Hydrops fetalis, Lymphadenopa...	ORPHA:3261
Selective Igm Deficiency	Lymphadenitis, Rheumatoid arthritis, Lymphadenopathy	ORPHA:331235
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Periorbital edema, Abnormal sacroiliac joint morphology, Splenomegaly, Lymphadenopathy, Arthritis	ORPHA:32960
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Lymphadenitis, Lymphadenopathy, Pleural effusion, Ascites	OMIM:306400
Onychotrichodysplasia And Neutropenia	Curly hair, Chronic neutropenia, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashe...	OMIM:258360
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Failure to thrive, Lymphadenopathy	OMIM:617718
Common Variable Immunodeficiency	Splenomegaly, Failure to thrive in infancy, Lymphadenopathy	ORPHA:1572
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Cranial hyperostosis	OMIM:612918
Immunodeficiency 31C	Splenomegaly, Weight loss, Lymphadenopathy	OMIM:614162
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Failure to thrive, Absent peripheral lymph nodes in presence of infection	OMIM:600802
Full Nf2-Related Schwannomatosis	Facial palsy, Myelopathy, Unsteady gait, Spinal cord tumor, Brain stem compression, Wrist drop, F...	ORPHA:637
Immunodeficiency 55	Microcephaly, Lymphadenopathy	OMIM:617827
Marburg Hemorrhagic Fever	Anorexia, Aggressive behavior, Dehydration, Lymphadenopathy, Arthritis, Lethargy	ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233710
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Lymphadenitis, Lymphadenopathy	OMIM:233690
Phace Association	Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Crimean-Congo Hemorrhagic Fever	Anorexia, Pericardial effusion, Splenomegaly, Lymphadenopathy, Agitation, Emotional lability, Asc...	ORPHA:99827
Sturge-Weber Syndrome	Buphthalmos	OMIM:185300
Igg4-Related Submandibular Gland Disease	Facial edema, Periorbital edema, Xerostomia, Lymphadenopathy	ORPHA:449432
Phace Syndrome	Hypothyroidism, Ectopic thyroid	ORPHA:42775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia	OMIM:253280
Igg4-Related Ophthalmic Disease	Periorbital edema, Palpebral edema, Lymphadenopathy	ORPHA:449563
Leptospirosis	Pleural effusion, Anorexia, Lymphadenopathy	ORPHA:509
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016

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.

There is no histopathology data for Ids

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 Ids.

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

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MGI Allele	Allele Type	Produced
Ids^{tm47325(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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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