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Gene: Gnptab MGI:3643902

Gene Summary

Name:

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits

Synonyms:

EG432486

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Gnptab^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged kidney	Gnptab^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged heart	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
small heart	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
no spontaneous movement	Gnptab^em1(IMPC)Mbp	HET	E18.5	0.00
no spontaneous movement	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
enlarged lymph nodes	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged ovary	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
cataract	Gnptab^em1(IMPC)Mbp	HET	Early adult	3.10×10^-05
small stomach	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged spleen	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal kidney morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal stomach morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal ovary morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta size	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
small kidney	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal spleen morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal placenta vasculature	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal kidney morphology	Gnptab^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal placenta morphology	Gnptab^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal blood vessel morphology	Gnptab^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal vitreous body morphology	Gnptab^em1(IMPC)Mbp	HET	Early adult	3.28×10^-05
abnormal skin morphology	Gnptab^em1(IMPC)Mbp	HET	Late adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

27 Images

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X-ray

XRay Images Whole Body Dorso Ventral

42 Images

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Gross Morphology Embryo E18.5

Images

2 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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Human diseases caused by Gnptab 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 Gnptab (3 diseases)
Human diseases predicted to be associated with Gnptab (2859 diseases)

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

Disease	Matching phenotypes	Source
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str...	OMIM:252500
Mucolipidosis Iii Alpha/Beta	Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration	OMIM:252600
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576

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

Disease	Matching phenotypes	Source
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Lactate Dehydrogenase B Deficiency	Reduced lactate dehydrogenase B level	OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Alcohol Sensitivity, Acute	Reduced acetaldehyde dehydrogenase level	OMIM:610251
Acatalasemia	Reduced catalase level	OMIM:614097
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Medial Condensing Osteitis Of The Clavicle	Elevated circulating C-reactive protein concentration, Limited shoulder movement, Patchy reductio...	ORPHA:57196
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn...	ORPHA:970
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of...	ORPHA:2790
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye...	ORPHA:497764
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615269
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Tremor, Chorea, Axonal degeneration, Gait ataxia, Loss of ambulat...	OMIM:208920
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem...	OMIM:614877
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal...	OMIM:617672
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Ollier Disease	Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Platyspond...	ORPHA:296
Paget Disease Of Bone 4	Osteolysis	OMIM:606263
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 29	Cataract	OMIM:115800
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T...	ORPHA:53697
Isolated Glycerol Kinase Deficiency	Osteoporosis, Elevated circulating creatine kinase concentration, Scoliosis, Hyperlordosis	ORPHA:408
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Increased circulating antibody lev...	ORPHA:100024
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of peripheral myelinated ner...	OMIM:302800
Xanthoma Disseminatum	Osteolysis	ORPHA:158003
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Impaired distal proprioception, Quadriceps muscle weakness, Axona...	ORPHA:101097
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis, Dystonia, Facial palsy, Elevated alkaline phosphatase of bone or...	OMIM:167320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired dis...	OMIM:619742
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger	ORPHA:2787
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Hypoplasia of the pons, Dysplastic corpus callosum, Respira...	OMIM:618276
Juvenile Hyaline Fibromatosis	Abnormal diaphysis morphology, Progressive flexion contractures, Osteolysis, Joint stiffness	ORPHA:2028
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Vocal cord paresis, Broad-based gait, Dis...	OMIM:614895
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon...	OMIM:265900
Spinocerebellar Ataxia Type 25	Impaired pain sensation, Decreased number of large peripheral myelinated nerve fibers, Babinski s...	ORPHA:101111
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Osteoporosis	Osteoporosis	OMIM:166710
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn...	OMIM:145900
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Inherited Creutzfeldt-Jakob Disease	Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami...	ORPHA:282166
Autosomal Recessive Distal Osteolysis Syndrome	Osteolysis, Short distal phalanx of finger	ORPHA:2776
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Decreased testicular size, Ataxia, Short stature, Kyphoscoliosis,...	OMIM:604168
Familial Infantile Bilateral Striatal Necrosis	Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv...	ORPHA:225154
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma...	ORPHA:2869
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615271
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Abnormal form of the verteb...	ORPHA:93160
Premature Ovarian Failure 2B	Osteoporosis	OMIM:300604
Spastic Paraplegia 32, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Cerebral atrophy, A...	OMIM:611252
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Impaired vibration sensation in the lower limbs, Hand tremor, Head tremor, ...	OMIM:614409
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Somatic sensory dysfunction, Distal muscle weakness, Tremor, Gait ataxia, Dif...	ORPHA:423296
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Kyphosis, Abnormal fo...	ORPHA:2635
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Squamous Cell Carcinoma Of The Esophagus	Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Autosomal Recessive Spastic Paraplegia Type 46	Urinary incontinence, Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper lim...	ORPHA:320391
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Waddling gait, Delayed CNS myelination, Peripheral axonal neuropathy, Short s...	OMIM:619090
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Osteolysis, Anemia	ORPHA:158014
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Distal muscle ...	OMIM:609260
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c...	OMIM:614727
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Abnormality of ...	ORPHA:3363
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Confusion, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Recurr...	ORPHA:204
Marinesco-Sjogren Syndrome	Cerebellar atrophy, Ataxia, Short stature, Hypergonadotropic hypogonadism, Kyphosis, Progressive ...	OMIM:248800
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency	Truncal ataxia, Limb ataxia, Cognitive impairment, Brain atrophy, Difficulty walking, Cerebellar ...	ORPHA:363432
Autosomal Spastic Paraplegia Type 30	Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Babinski sign, Scissor...	ORPHA:101010
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Abnormal circulating ...	OMIM:619795
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Urinary incontinence, Babinski sign, Cerebral atrophy, Frontal lobe dementia, Ax...	OMIM:221770
Adult Krabbe Disease	Urinary incontinence, Progressive neurologic deterioration, Hoffmann sign, Upper limb muscle weak...	ORPHA:206448
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Proximal muscle weakness, Axonal degeneration, Distal sensory impairment, Upper l...	OMIM:616155
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout	OMIM:610947
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4	Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical...	OMIM:615268
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo...	ORPHA:2204
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m...	ORPHA:324964
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Distal muscle...	OMIM:601596
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu...	OMIM:214400
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Torticollis, Tr...	OMIM:607317
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Distal sensory impairment, Gait ataxia, Cerebellar vermis ...	OMIM:617018
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, External ophthalmoplegia, Tremor, Unsteady gait, Babinski sign, Limb ataxia, ...	OMIM:615768
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Distal muscle weakness, Facial palsy, Lower limb muscle weakness, Impaired pain sensation, Impair...	OMIM:607684
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the dentition, Cryptorchidism, Obesity, Hypogonadism,...	OMIM:615982
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Subacute Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Distal muscle weakness, Symmetric peripheral demyelination, Demyelin...	ORPHA:206594
Autosomal Recessive Spastic Paraplegia Type 32	Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A...	ORPHA:171622
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn...	OMIM:180800
Charcot-Marie-Tooth Disease Type 4G	Impaired vibratory sensation, Peripheral axonal neuropathy, Impaired pain sensation, Proximal mus...	ORPHA:99953
Spastic Paraplegia 7, Autosomal Recessive	Urinary incontinence, Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Up...	OMIM:607259
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Distal muscle weakness, Impaired pain sensation, Impaired distal vibration sensation, Babinski si...	OMIM:618279
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Proximal muscle w...	ORPHA:98856
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A	Cerebellar atrophy, Lower limb spasticity, Ataxia, Progressive neurologic deterioration, Cerebral...	OMIM:613925
Nescav Syndrome	Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w...	OMIM:614255
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, D...	OMIM:118200
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Dysmetria, Enuresis nocturna, Foot dorsiflexor weakness, Ophthalmoplegia, N...	ORPHA:171629
Myopathy And Diabetes Mellitus	Impaired vibratory sensation, Peripheral axonal neuropathy, Inability to walk, Progressive proxim...	ORPHA:2596
Osteosarcoma	Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Pathol...	ORPHA:668
Oliver-Mcfarlane Syndrome	Hypoplasia of penis, Small for gestational age, Decreased response to growth hormone stimulation ...	OMIM:275400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Progressive external ophthalmoplegia, Premature ovarian insufficiency, Parkinsonism, Proximal mus...	OMIM:609286
Ck Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,...	OMIM:300831
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hyperleucine-Isoleucinemia	Failure to thrive, Retinal degeneration	OMIM:238340
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls	OMIM:615945
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnormal carpal mor...	ORPHA:93351
Spastic Paraplegia 78, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A...	OMIM:617225
Spinocerebellar Ataxia 41	Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy	OMIM:616410
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Cataract	ORPHA:79281
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax...	OMIM:615362
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Enlarged epiphyses, Abnormal circulating C-reactive protein con...	ORPHA:1159
Cerebral Palsy, Ataxic, Autosomal Recessive	Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait	OMIM:605388
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Dista...	OMIM:618387
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria, Cataract	OMIM:619813
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity	ORPHA:217012
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,...	OMIM:610185
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Tenosynovial Giant Cell Tumor	Abnormal hip joint morphology, Joint stiffness, Limitation of joint mobility, Osteolysis, Abnorma...	ORPHA:66627
Spinocerebellar Ataxia, Autosomal Recessive 29	Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi...	OMIM:619389
Ceroid Lipofuscinosis, Neuronal, 11	Cerebellar atrophy, Mental deterioration, Optic atrophy, Ataxia	OMIM:614706
Infantile Neuronal Ceroid Lipofuscinosis	Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Dysmetria, Ataxia, Clumsiness, My...	ORPHA:79263
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Autosomal Spastic Paraplegia Type 58	Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr...	ORPHA:397946
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Clonus, Demyelinating motor neuropathy, Abnormal pyramidal sign, Dysmetria, Axial muscle weakness...	OMIM:616479
Macular Degeneration, Age-Related, 13	Drusen, Macular degeneration, Choroidal neovascularization, Macular scar	OMIM:615439
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Cerebellar vermis hypoplasia, Urinary incontinence, Abnormal pyramidal sign, Dysmetria, Gait atax...	ORPHA:98
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Camptodactyly of finger, Limitation of joint mobility, Osteolysis, Slender long bone, Metacarpal ...	ORPHA:2774
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Impaired vibratory sensation, Impaired pain sensation, Distal sensory impairment, Distal upper li...	OMIM:615185
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Lower limb muscle weakness, Impaired distal ...	OMIM:615035
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Ethanolaminosis	Cardiomegaly	OMIM:227150
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Foot dorsiflexor weakness, Distal muscle weakness, Segmental peripheral demyelination/remyelinati...	OMIM:606483
Frank-Ter Haar Syndrome	Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacarpal mo...	ORPHA:137834
Brachyolmia Type 1, Hobaek Type	Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short...	OMIM:271530
Spinocerebellar Ataxia Type 5	Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance	ORPHA:98766
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Distal muscle weakn...	OMIM:118220
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr...	OMIM:602080
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Urinary incontinence, Rigidity, Frontotemporal dementia, Babinski sign, Astrocytosis, Gait distur...	OMIM:600795
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Fractures of the long bones, Osteoporosi...	ORPHA:319195
Spinocerebellar Ataxia 23	Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen...	OMIM:610245
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Lower limb muscle weakness, Decreased number of large peripheral myelinated nerve fibers, Distal ...	OMIM:608340
Developmental And Epileptic Encephalopathy 76	Cerebellar atrophy, Lower limb spasticity, Delayed CNS myelination, Inability to walk, Cerebral a...	OMIM:618468
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, Proximal muscle weakness,...	OMIM:608627
Stargardt Disease 1	Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy	OMIM:248200
Spinocerebellar Ataxia 17	Diffuse cerebral atrophy, Urinary incontinence, Chorea, Dysmetria, Gait ataxia, Gliosis, Intentio...	OMIM:607136
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Osteoarthritis, Osteolysis, Abnormal diaphysis morphology, Scoliosis, Abnormal...	ORPHA:1657
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Amyotrophic Lateral Sclerosis 27, Juvenile	Lower limb spasticity, Tongue atrophy, Hyperlordosis, Progressive muscle weakness, Gowers sign, G...	OMIM:620285
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Distal muscle weakness, Foot dorsiflexor weakness, Impaired dista...	OMIM:614436
Null Syndrome	Ataxia, Abnormal cerebellum morphology, Inability to walk, Optic atrophy, CNS hypomyelination, Pr...	ORPHA:280234
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Cerebellar atrophy, Broad-based gait, Short stature, Hand tremor, Gait ataxia, Atrophy/Degenerati...	OMIM:617862
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Impaired distal proprioception, Tremor, Impaired vibration sensation in the lower limbs, Hyperton...	ORPHA:137898
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Dystonia, Ataxia, Premature ovarian insufficiency, Babinski sign, Hand tremor...	OMIM:615889
Neuropathy, Hereditary Motor And Sensory, Russe Type	Distal muscle weakness, Paralysis, Decreased number of large peripheral myelinated nerve fibers, ...	OMIM:605285
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Spastic tetraplegia, Sco...	OMIM:617207
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Cone-shaped epiphysis, Platyspondyly, Osteoporosis	ORPHA:71267
Spinocerebellar Ataxia 35	Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ...	OMIM:613908
Burkitt Lymphoma	Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Autosomal Recessive Spastic Paraplegia Type 74	Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Difficulty walkin...	ORPHA:468661
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la...	OMIM:617087
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Cerebellar atrophy, Ataxia, Involuntary movements, Elevated circulating aspartate aminotransferas...	OMIM:271245
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Spinocerebellar Ataxia, Autosomal Recessive 24	Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia	OMIM:617133
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia	Cerebellar atrophy, Broad-based gait, Short stature, Babinski sign, Dysmetria, Clumsiness, Progre...	ORPHA:284332
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera...	OMIM:604484
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Waddling gait, Hypoesthesia, Unsteady gai...	OMIM:609311
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor...	ORPHA:98762
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Gm1 Gangliosidosis	Tremor, Depressed nasal ridge, Abnormal form of the vertebral bodies, Decreased beta-galactosidas...	ORPHA:354
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Urinary incontinence, Spastic tetrap...	OMIM:612319
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Spinocerebellar Ataxia 31	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia	OMIM:117210
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Foot dorsiflexor ...	OMIM:605588
Sorsby Pseudoinflammatory Fundus Dystrophy	Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro...	ORPHA:59181
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif...	OMIM:118210
Spinocerebellar Ataxia 45	Cerebellar atrophy, Limb ataxia, Gait ataxia	OMIM:617769
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
X-Linked Progressive Cerebellar Ataxia	Foot dorsiflexor weakness, Unsteady gait, Babinski sign, Limb ataxia, Dysmetria, Spastic dysarthr...	ORPHA:1175
Epilepsy, Progressive Myoclonic, 8	Cerebellar atrophy, Progressive neurologic deterioration, Atrophy/Degeneration affecting the brai...	OMIM:616230
Dystonia With Cerebellar Atrophy	Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia	OMIM:611694
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M...	OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu...	OMIM:606482
Galactosemia Ii	Galactosuria, Cataract	OMIM:230200
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness...	ORPHA:2386
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction	Cerebellar atrophy, Inability to walk, Ataxia	OMIM:619333
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Oculogyric crisis, Tremor, Bilateral ptos...	ORPHA:330050
Leukodystrophy, Hypomyelinating, 21	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Corpus callosum atrophy, Cryptorchidis...	OMIM:619310
Odontochondrodysplasia 1	Biconvex vertebral bodies, Short metacarpal, Brachydactyly, Metaphyseal widening, Osteoporosis, F...	OMIM:184260
Spinocerebellar Ataxia Type 30	Limb ataxia, Cerebellar vermis atrophy, Gait ataxia	ORPHA:211017
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Finger clinodactyly, Osteoporosis, Coxa valga	ORPHA:2958
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Drusen, Reticular pigmentary degeneration, Retinal dystrophy	OMIM:267800
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Urinary incontinence, Spastic tetraparesis, Babinski sign, Loss of ambulation, Gait ataxia, Menta...	OMIM:249900
Ovarian Dysgenesis 1	Osteoporosis	OMIM:233300
Prieto Syndrome	Clinodactyly, Osteoporosis, Radial deviation of finger, Coxa valga	OMIM:309610
Familial Hyperprolactinemia	Osteopenia, Osteoporosis	ORPHA:397685
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Elevated circulating creatine kinase concentration, Hyperlordosis, Osteolysis, Increased suscepti...	ORPHA:52430
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy	Cerebellar atrophy, Scoliosis, Spastic tetraparesis, Brain atrophy	OMIM:618741
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Osteoporosis, Scoliosis	OMIM:616033
Iris Pigment Layer, Cleavage Of	Cataract, Peripheral retinal detachment	OMIM:147610
Maffucci Syndrome	Multiple enchondromatosis, Recurrent fractures, Osteolysis, Scoliosis	ORPHA:163634
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Macular Dystrophy, Retinal, 1, North Carolina Type	Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy	OMIM:136550
Keratoderma Hereditarium Mutilans	Osteolysis	ORPHA:494
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger...	ORPHA:1525
Spastic Paraplegia Type 7	Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,...	ORPHA:99013
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Distal muscle weakness, Ataxia, Segmental peripheral demyelination/remyelin...	OMIM:601098
Spinocerebellar Ataxia, Autosomal Recessive 12	Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Optic atrophy, Limb ataxia, Gai...	OMIM:614322
Adenocarcinoma Of The Esophagus	Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy	ORPHA:99976
Cone-Rod Dystrophy 7	Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy	OMIM:603649
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scol...	OMIM:615157
Mast Syndrome	Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi...	OMIM:248900
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Neuropath...	OMIM:607706
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions	Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Truncal ataxia	OMIM:611726
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia...	OMIM:607458
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Abnormality of the dentition	OMIM:251700
Spastic Paraplegia 30, Autosomal Dominant	Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg...	OMIM:610357
Macular Dystrophy, Retinal, 2	Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal...	OMIM:608051
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu...	OMIM:236792
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Bardet-Biedl Syndrome 18	Renal insufficiency, Cataract, Stage 5 chronic kidney disease	OMIM:615995
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Limb muscle weakness, O...	OMIM:620378
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Hypergonadotropic hypogonadism, Recurrent m...	OMIM:607426
Cach Syndrome	Progressive neurologic deterioration, Dysmetria, Premature ovarian insufficiency, Renal hypoplasi...	ORPHA:135
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im...	OMIM:607731
Congenital Disorder Of Glycosylation With Defective Fucosylation 2	Cerebellar atrophy, Recurrent respiratory infections, Delayed CNS myelination, Appendicular spast...	OMIM:618324
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration	OMIM:610951
Fatty Acyl-Coa Reductase 1 Deficiency	Cerebellar atrophy, Short stature, Depressed nasal bridge, Highly arched eyebrow, Spastic tetrapa...	ORPHA:438178
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Osteoporosis	OMIM:204730
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Chronic Inflammatory Demyelinating Polyneuropathy	Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Fatiguable weaknes...	ORPHA:2932
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Cerebellar atrophy, Ataxia, Progressive neurologic deterioration, Kyphosis, Synophrys, Cleft pala...	ORPHA:85317
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Poor head control, Respiratory insufficie...	OMIM:618184
Macular Dystrophy, Patterned, 3	Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy	OMIM:617111
Late-Onset Retinal Degeneration	Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ...	OMIM:605670
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Lower limb...	OMIM:604360
Grant Syndrome	Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2097
Ceroid Lipofuscinosis, Neuronal, 8	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo...	OMIM:600143
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal sensory im...	OMIM:607677
Ramon Syndrome	Osteolysis	ORPHA:3019
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender...	ORPHA:1486
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Decrease...	OMIM:311070
Hypergonadotropic Hypogonadism-Cataract Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2410
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Segmental periphe...	OMIM:607734
Autosomal Recessive Progressive External Ophthalmoplegia	Cerebellar atrophy, Ataxia, Facial palsy, Proximal muscle weakness, External ophthalmoplegia, Act...	ORPHA:254886
Spinocerebellar Ataxia 30	Cerebellar atrophy, Ataxia	OMIM:613371
Spastic Ataxia, Charlevoix-Saguenay Type	Impaired vibration sensation in the lower limbs, Dysmetria, Pontine T2 hypointensity, Progressive...	OMIM:270550
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Short stature, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesi...	OMIM:616291
Spinocerebellar Ataxia Type 35	Cerebellar atrophy, Torticollis, Ophthalmoplegia, Babinski sign, Limb ataxia, Dysmetria, Gait ata...	ORPHA:276193
Idiopathic Hypercalciuria	Osteopenia, Abnormal circulating calcium concentration, Osteoporosis	ORPHA:2197
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd...	OMIM:614487
Charcot-Marie-Tooth Disease, Type 4K	Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination	OMIM:616684
Sodium-Dependent Multivitamin Transporter Deficiency	Cerebellar atrophy, Poor head control, Cerebral palsy, Hypoplasia of the pons, Cerebral atrophy, ...	OMIM:618973
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration	OMIM:616187
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Epicanthus, Short stature, Depressed nasal bridge, Axonal degener...	OMIM:162100
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Dysmetria, Chronic axonal neuropathy, Lower limb muscle weakness, Impaired ...	ORPHA:88644
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Mitochondrial Dna Depletion Syndrome 18	Distal muscle weakness, Clonus, Proximal muscle weakness, Axonal degeneration, Lacticaciduria, Fa...	OMIM:618811
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Arts Syndrome	Ataxia, Progressive muscle weakness, Recurrent upper respiratory tract infections, Optic atrophy,...	OMIM:301835
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Anteverted nares, Kyphoscoliosis, Inability to walk, Cerebral atrophy, Growth...	OMIM:618006
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, S...	OMIM:604563
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Bothnia Retinal Dystrophy	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ...	ORPHA:85128
Sandhoff Disease, Juvenile Form	Cerebellar atrophy, Distal muscle weakness, Ataxia, Incoordination, Reduced beta-hexosaminidase a...	ORPHA:309162
Spinocerebellar Ataxia Type 41	Cerebellar vermis atrophy, Gait ataxia	ORPHA:458798
Congenital Disorder Of Glycosylation, Type Iiz	Appendicular spasticity, Poor head control, Diffuse cerebellar atrophy, Clonus	OMIM:620201
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon...	ORPHA:2771
Spastic Paraplegia, Ataxia, And Mental Retardation	Cerebellar atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Spastic paraplegia, Impa...	OMIM:607565
Gordon Holmes Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Chorea, Cerebral atrophy, Primary amen...	OMIM:212840
Analbuminemia	Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra...	OMIM:616000
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Kyphosis, Increased circulating IgE...	ORPHA:3409
Spinocerebellar Ataxia 14	Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent...	OMIM:605361
Infantile Myofibromatosis	Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Abnormal metaphysis morphology	ORPHA:2591
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Cerebellar atrophy, Abnormal lateral ventricle morphology, Wide nose, Depressed nasal bridge, Sev...	ORPHA:488635
Retinitis Pigmentosa 48	Macular degeneration, Rod-cone dystrophy	OMIM:613827
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth	Cerebellar atrophy, Slurred speech, Optic atrophy, Gait ataxia	OMIM:619323
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyperostosi...	OMIM:176920
De Sanctis-Cacchione Syndrome	Bilateral cryptorchidism, Axonal degeneration, Scissor gait, Choreoathetosis, Hypertonia, Conjunc...	OMIM:278800
Stargardt Disease 3	Macular dystrophy, Macular atrophy, Macular flecks	OMIM:600110
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Respiratory insuffici...	ORPHA:254875
Mitochondrial Complex I Deficiency, Nuclear Type 12	Cerebellar atrophy, Ataxia, Proximal muscle weakness, Unsteady gait, Choreoathetosis, Dementia, M...	OMIM:301020
Retinitis Pigmentosa Inversa With Deafness	Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia	OMIM:268010
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ...	ORPHA:2370
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri...	OMIM:256731
Dystonia 23	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea...	OMIM:614860
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Waddling gait, Proximal muscle weakness in upper limbs, Neck flexor weakness, Kyphosis, Gowers si...	OMIM:618138
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Thoracic scoliosis, Short stature, Prominent nose, Hypopla...	OMIM:616171
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615267
Doyne Honeycomb Retinal Dystrophy	Reticular pigmentary degeneration, Retinal dystrophy	OMIM:126600
Spinocerebellar Ataxia Type 2	Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella...	ORPHA:98756
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Charcot-Marie-Tooth Disease, Type 4B3	Lower limb muscle weakness, Urinary incontinence, Ophthalmoplegia, Distal sensory impairment, Upp...	OMIM:615284
Oculopharyngodistal Myopathy	Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal...	ORPHA:98897
Spondyloepiphyseal Dysplasia Tarda	Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e...	ORPHA:93284
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin...	OMIM:608673
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Neck flexor weakness, Impaired distal proprioception, Progressive muscle weakness, Hand tremor, G...	OMIM:157640
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Anteverted nares, Tremor, Cerebellar gl...	OMIM:616505
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Abnormal for...	ORPHA:371428
Desminopathy	Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ...	ORPHA:98909
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ...	OMIM:251450
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Osteoporosis	OMIM:619971
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis	OMIM:126550
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Clumsiness,...	OMIM:610003
Spinocerebellar Ataxia, Autosomal Recessive 8	Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia...	OMIM:610743
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Abnormal form of the vertebral bodies, Abnormal forearm b...	ORPHA:2583
Paraparetic Variant Of Guillain-Barré Syndrome	Peripheral axonal neuropathy, Impaired distal proprioception, Paraparesis, Urinary bladder sphinc...	ORPHA:231445
Juvenile Paget Disease	Bowing of the long bones, Recurrent fractures, Cranial hyperostosis, Osteoporosis, Hyperuricemia,...	ORPHA:2801
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Elevated circulating C-reactive protein concent...	OMIM:612852
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Osteopenia, Osteoporosis	OMIM:615270
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, Broad t...	OMIM:619638
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Cystoid macular degeneration, Subretinal fluid	OMIM:153700
Multiple Sulfatase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Anteverted nares, Splenomegaly, Cerebral...	OMIM:272200
Behavioral Variant Of Frontotemporal Dementia	Frontotemporal dementia, Astrocytosis, Frontotemporal cerebral atrophy, Gait disturbance, Fascicu...	ORPHA:275864
Spastic Paraplegia 18B, Autosomal Recessive	Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon...	OMIM:611225
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu...	OMIM:607250
Spinocerebellar Ataxia, Autosomal Recessive 17	Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Synophrys, ...	OMIM:616127
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction, Cataract	ORPHA:1380
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Short stature, Po...	ORPHA:1170
Immunodeficiency 104	Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux	OMIM:608971
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce...	ORPHA:521406
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Cerebellar atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Tongue atroph...	ORPHA:496689
Trichomegaly	Cataract	OMIM:190330
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Spinocerebellar Ataxia, X-Linked 1	Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio...	OMIM:302500
Spinocerebellar Ataxia Type 37	Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo...	ORPHA:363710
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Steppage gait, Onion bulb formation, Foot dorsiflexor weakness, Distal sensory impairment	OMIM:616039
Krabbe Disease	Diffuse cerebral atrophy, Optic atrophy, Reduced galactocerebrosidase activity, Hypertonia, Neuro...	OMIM:245200
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Progressive neurologic deterioration, Corpus callosum...	OMIM:169500
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Delayed CNS myelination, Poor head control, Ataxia, Clonus, Incoordination, O...	OMIM:616034
Cataract 47	Microcornea, Cataract, Glycosuria	OMIM:612018
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Epilepsy, Progressive Myoclonic, 11	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor	OMIM:618876
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Short stature, Tremor, Inability to walk, A...	OMIM:614831
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Urinary incontinence, Tremor, Oculomo...	OMIM:617145
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy...	OMIM:144750
Spastic Paraplegia 85, Autosomal Recessive	Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe...	OMIM:619686
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Hjv Or Hamp-Related Hemochromatosis	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Abno...	ORPHA:79230
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Dysesthesia, Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb mu...	ORPHA:98916
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Distal muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Steppage gai...	OMIM:607736
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Bardet-Biedl Syndrome 16	External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615993
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal peripheral myelination, Urinary incontinence, Tremor, Limb-girdle muscle weakness, Tongu...	ORPHA:466768
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hypoplasia of the pons, Impaired proprioception, Hand tremor, Head tremor, Ophthalmoplegia, Gait ...	ORPHA:412057
Rothmund-Thomson Syndrome, Type 1	Osteoporosis	OMIM:618625
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speec...	OMIM:300423
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Macular Degeneration, Early-Onset	Macular degeneration, Choroidal neovascularization	OMIM:616118
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo...	ORPHA:249
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1	Cerebellar atrophy, Broad-based gait, Short stature, Dysmetria, Gait ataxia, Dysdiadochokinesis, ...	OMIM:224050
Osteogenesis Imperfecta, Type Xxi	Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platyspondyly, Scol...	OMIM:619131
Geroderma Osteodysplastica	Beaking of vertebral bodies, Recurrent fractures, Osteoporosis, Hip dislocation, Abnormal form of...	ORPHA:2078
4H Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Shor...	ORPHA:289494
Spinocerebellar Ataxia, Autosomal Recessive 6	Cerebellar atrophy, Short stature, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intent...	OMIM:608029
Nathalie Syndrome	Cataract	ORPHA:2663
Opitz Gbbb Syndrome	Bifid scrotum, Atrial septal defect, Enlarged ovaries, Hypospadias, Ventricular septal defect, Cr...	ORPHA:2745
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Neuromyelitis Optica Spectrum Disorder	Somatic sensory dysfunction, Functional abnormality of the bladder, Paraplegia, Optic neuritis, N...	ORPHA:71211
Leukodystrophy, Hypomyelinating, 18	Cerebellar atrophy, Dystonia, Babinski sign, Spastic tetraplegia, Dysmetria, Scoliosis, Atrophy/D...	OMIM:618404
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris...	OMIM:309300
Posterior Column Ataxia With Retinitis Pigmentosa	Recurrent urinary tract infections, Distal muscle weakness, Ataxia, Broad-based gait, Urinary inc...	OMIM:609033
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Kyphosis, Osteoporosis, Camptodactyly of finger, Scoliosis	ORPHA:48431
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Craniosynostosis, Osteoporosis, Joint hyperflexibility, Abnorma...	ORPHA:1515
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Osteoporosis, S...	OMIM:613849
Periventricular Nodular Heterotopia 8	Delayed CNS myelination, Cerebellar vermis atrophy, Spasticity	OMIM:618185
Spinocerebellar Ataxia 13	Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ...	OMIM:605259
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia, D...	ORPHA:90103
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cerebrotendinous Xanthomatosis	Abnormal eyelid morphology, Axonal degeneration, Progressive psychomotor deterioration, Abnormal ...	ORPHA:909
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneration, Diaphragmatic paralysi...	OMIM:620011
Stargardt Disease 4	Macular degeneration, Retinal flecks	OMIM:603786
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe...	ORPHA:2484
Spinocerebellar Ataxia, Autosomal Recessive 10	Cerebellar atrophy, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Tortuosity of conjunctiva...	OMIM:613728
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit...	ORPHA:85435
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes...	ORPHA:98912
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai...	OMIM:618369
Spinocerebellar Ataxia, Autosomal Recessive 22	Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet...	OMIM:616948
Progressive Myoclonic Epilepsy With Dystonia	Delayed CNS myelination, Diffuse cerebral atrophy, Recurrent upper respiratory tract infections, ...	ORPHA:352596
Charcot-Marie-Tooth Disease Type 4A	Neuropathic spinal arthropathy, Distal muscle weakness, Impaired distal proprioception, Decreased...	ORPHA:99948
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ...	ORPHA:100025
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro...	OMIM:256850
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis	OMIM:176670
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Prostatitis, Xerostomia, Enlarged lacrimal glands, Abnorma...	ORPHA:449432
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Cerebellar atrophy, Peripheral axonal neuropathy, Premature ovarian insufficiency, Ataxia, Optic ...	OMIM:619425
Spinocerebellar Ataxia, Autosomal Recessive 20	Cerebellar atrophy, Hepatomegaly, Epicanthus, Ataxia, Anteverted nares, Kyphoscoliosis, Splenomeg...	OMIM:616354
Ceroid Lipofuscinosis, Neuronal, 6A	Increased neuronal autofluorescent lipopigment, Retinal degeneration	OMIM:601780
Perrault Syndrome 1	Cerebellar atrophy, Ataxia, Short stature, Increased circulating gonadotropin level, Spastic dipl...	OMIM:233400
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Abnormal form of the vertebral bodies,...	ORPHA:577
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Short statu...	OMIM:616756
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Osteolysis	ORPHA:391
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Pauci...	OMIM:611890
Microcephaly, Seizures, And Developmental Delay	Cerebellar atrophy, Ataxia	OMIM:613402
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis...	ORPHA:77259
Ceroid Lipofuscinosis, Neuronal, 2	Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu...	OMIM:204500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,...	OMIM:618392
Microlissencephaly	Cerebellar atrophy, Pneumonia, Cerebral dysmyelination, Hypertonia, Cerebral cortical atrophy	ORPHA:1083
Pontocerebellar Hypoplasia, Type 2D	Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Delayed myelination, Spastic tetrapl...	OMIM:613811
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Congenital Myopathy 10B, Mild Variant	Neck flexor weakness, Hyperlordosis, Proximal muscle weakness, Progressive muscle weakness, Recur...	OMIM:620249
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Desmoid Tumor	Limitation of joint mobility, Osteolysis	ORPHA:873
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ...	ORPHA:2796
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Leukodyst...	OMIM:617916
Retinitis Pigmentosa 31	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:609923
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Cone-Rod Dystrophy 22	Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Charcot-Marie-Tooth Disease, Type 4D	Distal muscle weakness, Kyphoscoliosis, Impaired distal proprioception, Segmental peripheral demy...	OMIM:601455
Multiple Mitochondrial Dysfunctions Syndrome 6	Cerebellar atrophy, Poor head control, Dystonia, Ataxia, Inability to walk, Optic atrophy, Dysmet...	OMIM:617954
Spinocerebellar Ataxia 25	Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Impaired pain...	OMIM:608703
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Rigidity, Wide nasal ...	OMIM:610127
Scholte Syndrome	Cerebellar atrophy, Epicanthus, Kyphoscoliosis, Broad nasal tip, Bifid nasal tip, Abnormal pyrami...	OMIM:300977
Laing Early-Onset Distal Myopathy	Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Gai...	ORPHA:59135
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Elevated circulating creatine kinase concentration...	OMIM:255800
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Dystonia, Dysme...	ORPHA:313772
Spinocerebellar Ataxia 49	Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia...	OMIM:619806
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Somatic sensory dysfu...	OMIM:600882
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Enlarged kidney	OMIM:615285
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Dystonia, Neonatal death, CNS d...	OMIM:618237
Spastic Ataxia 9, Autosomal Recessive	Distal muscle weakness, Ataxia, Premature ovarian insufficiency, Impaired distal vibration sensat...	OMIM:618438
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Conjunctival telangiectasia, Ataxia, Short stature, Absent pubertal growth sp...	OMIM:615919
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ...	OMIM:618088
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Impaired distal proprioception, Gait ataxia, Steppage gait, Intention tremor, Facial palsy, Parki...	OMIM:258450
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce...	OMIM:617435
Pelizaeus-Merzbacher Disease	Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In...	OMIM:312080
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Distal muscle weakness, Segmental peripheral demyelination/remyelination, Distal sensory impairme...	OMIM:607791
Congenital Disorder Of Glycosylation, Type Iiy	Hip subluxation, Scoliosis, Reduced bone mineral density	OMIM:620200
Warburg Micro Syndrome 1	Overlapping toe, Osteoporosis, Joint hypermobility, Kyphoscoliosis	OMIM:600118
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Dementia, Gliosis, Neuronal loss...	OMIM:143100
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Distal muscle weakness, Impaired distal vibration sensation, Steppa...	OMIM:610100
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal pigment epithelial atrophy	OMIM:608850
Leukodystrophy, Hypomyelinating, 14	Cerebellar atrophy, Cerebral atrophy, Growth delay, Dystonia, Spasticity	OMIM:617899
Bardet-Biedl Syndrome 21	Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Abnormality ...	OMIM:617406
L-2-Hydroxyglutaric Aciduria	Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, Spastic tetraparesis, Abnormality ...	ORPHA:79314
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Spastic Paraplegia 75, Autosomal Recessive	Cerebellar atrophy, Corpus callosum atrophy, Impaired distal vibration sensation, Optic atrophy, ...	OMIM:616680
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Dysesthesia, Head titubation, Abnormal pyramidal sign, Cere...	ORPHA:527497
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Kyphoscoliosis, Generalized muscle weakness, Facial diplegia, Tip-toe gait, D...	ORPHA:370980
Congenital Cerebellar Ataxia Due To Rnu12 Mutation	Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Decreased liver ...	ORPHA:512260
Retinopathy, Pericentral Pigmentary, Dominant	Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat...	OMIM:180210
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Intestinal perforation, Abnormality of the tongue, Pathologic fract...	ORPHA:314652
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C...	ORPHA:98755
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa...	ORPHA:2848
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Facial palsy, Sali...	ORPHA:79493
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Vertebral compr...	OMIM:617952
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Ceroid Lipofuscinosis, Neuronal, 3	Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme...	OMIM:204200
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Epicanthus, Short stature, Inability to walk, Synophrys, Upper motor neuron d...	OMIM:619641
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Osteoporosis, Genu valgum	OMIM:614880
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2	Cerebellar atrophy, Optic disc pallor, External ophthalmoplegia, Inability to walk, Optic atrophy...	OMIM:617086
Spinocerebellar Ataxia, Autosomal Recessive 2	Dilated fourth ventricle, Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria...	OMIM:213200
Short Stature, Dauber-Argente Type	Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Reduced bone mine...	OMIM:619489
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Cerebellar atrophy, Ataxia, Low alkaline phosphatase, Sparse lateral eyebrow	OMIM:618879
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Duchenne Muscular Dystrophy	Waddling gait, Proximal muscle weakness, Progressive muscle weakness, Cognitive impairment, Scoli...	ORPHA:98896
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U...	OMIM:616108
Harel-Yoon Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Optic atrophy, Upsla...	OMIM:617183
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Legg-Calvé-Perthes Disease	Cartilage destruction, Short stature, Abnormality of the dentition	ORPHA:2380
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Spastic Ataxia 3, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Neurogenic bladder, Dystonia, Ataxia, Dysmetria, Gait ataxia,...	OMIM:611390
Sialidosis Type 2	Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Prominent nasal bridge, Kyphoscoliosis, Progressive...	OMIM:214150
Retinal Cone Dystrophy 1	Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration	OMIM:180020
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Distal muscle weakness, Proximal muscle weakness, Distal sensory impairment, Gait disturbance, Pe...	ORPHA:99944
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont...	OMIM:259600
Alg6-Cdg	Failure to thrive, Jaundice, Decreased LDL cholesterol concentration, Macroglossia, Abnormality o...	ORPHA:79320
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr...	OMIM:241530
Juvenile Huntington Disease	Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre...	ORPHA:248111
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Mitochondrial Complex I Deficiency, Nuclear Type 19	Cerebellar atrophy, Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, G...	OMIM:618241
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Somatic sensory dysfunction, Distal muscle weakness, Decreased number of large peripheral myelina...	OMIM:615376
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp...	OMIM:203700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Cerebellar atrophy, Progressive external ophthalmoplegia, Elevated hepatic transaminase, Facial p...	OMIM:610131
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Progressive muscle weakness, Osteomyelit...	OMIM:256810
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity	Cerebellar atrophy, Hypertonia, Spastic tetraplegia, Cerebral atrophy	OMIM:618730
Cerebral Visual Impairment	Optic disc pallor, Short attention span, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, U...	ORPHA:447788
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Dystonia, Ataxia, Short stature, Postural tremor, Hypogonadotropic hypogonadi...	OMIM:607694
Cockayne Syndrome Type 3	Mild postnatal growth retardation, Progressive neurologic deterioration, Intention tremor, Hepato...	ORPHA:90324
Pseudopseudohypoparathyroidism	Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Distal muscle weakness, Impaired pain sensation, Tremor, Splenomegaly, Limb ataxia,...	OMIM:616719
Pontocerebellar Hypoplasia, Type 3	Cerebellar atrophy, Optic disc pallor, Poor head control, Short stature, Depressed nasal bridge, ...	OMIM:608027
Spinocerebellar Ataxia 5	Cerebellar atrophy, Impaired vibratory sensation, Poor head control, Incoordination, Ataxia, Broa...	OMIM:600224
Charcot-Marie-Tooth Disease Type 1F	Urinary incontinence, Demyelinating motor neuropathy, Impaired proprioception, Hand tremor, Gait ...	ORPHA:101085
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Rabson-Mendenhall Syndrome	Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Furrowed tongue, Nep...	ORPHA:769
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Anteverted nares, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait a...	OMIM:617810
Metachromatic Leukodystrophy	Bulbar palsy, Ataxia, Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Chorea, B...	OMIM:250100
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 15	Macular degeneration	OMIM:615591
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 7	Macular degeneration	OMIM:610149
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Alexander Disease	Ataxia, Facial palsy, Clonus, Short neck, Hyperlordosis, Kyphosis, Chorea, Tremor, Abnormal pyram...	ORPHA:58
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Urinary incontinence, Tremor, Loss of Purkinje cells ...	OMIM:616795
Molybdenum Cofactor Deficiency, Complementation Group A	Reduced xanthine dehydrogenase level, Opisthotonus, Axonal loss, Gliosis, Decreased urinary sulfa...	OMIM:252150
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Tremor, Inability to walk, Sho...	OMIM:218000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Hyperlipidemia, Osteoporosis	ORPHA:369
Spinocerebellar Ataxia 48	Cerebellar atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Chorea, Babinski sign, Dy...	OMIM:618093
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargement of parot...	ORPHA:79078
Alpha-B Crystallin-Related Late-Onset Myopathy	Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle...	ORPHA:399058
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,...	OMIM:618090
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Thick eyebrow, Neurogenic bladder, Eczema, Decreased response to growth hormone stimu...	ORPHA:488632
Developmental And Epileptic Encephalopathy 37	Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper...	OMIM:616981
Spinocerebellar Ataxia 19	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer...	OMIM:607346
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impai...	OMIM:619028
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sens...	ORPHA:88628
Hypercholanemia, Familial, 2	Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Severe Intellectual Disability And Progressive Spastic Paraplegia	Cerebellar atrophy, Waddling gait, Short stature, Bulbous nose, Babinski sign, Spastic dysarthria...	ORPHA:280763
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation	OMIM:617917
Spinocerebellar Ataxia 28	Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a...	OMIM:610246
Coenzyme Q10 Deficiency, Primary, 4	Cerebellar atrophy, Ataxia, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Myoclonus,...	OMIM:612016
Macular Degeneration, Atrophic, X-Linked	Macular degeneration	OMIM:300834
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Epicanthus, Telecanthus, Short stature, Anteverted nares, Aga...	ORPHA:847
Acute Disseminated Encephalomyelitis	Viral hepatitis, Somatic sensory dysfunction, Ataxia, Severe parainfluenza infection, Disseminate...	ORPHA:83597
Brachydactylous Dwarfism, Mseleni Type	Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Limitation of joint...	ORPHA:2619
Spinocerebellar Ataxia Type 17	Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ...	ORPHA:98759
New-Onset Refractory Status Epilepticus	Cerebellar edema, Confusion, Cognitive impairment, Infectious encephalitis, Global brain atrophy	ORPHA:363558
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at...	OMIM:617560
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Caudate atrophy, Ataxia, Aplasia/Hypoplasia of the cerebellar vermis, Prominent nose, Partial abs...	ORPHA:137831
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Short stature, Babinski sign, Ab...	ORPHA:363429
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short femur, Limited elbow movement, Kyphosi...	ORPHA:94068
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Cerebral atrophy, Hyperkinetic ...	OMIM:614254
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Myopathy, Scapulohumeroperoneal	Neck flexor weakness, Facial palsy, Hyperlordosis, Progressive muscle weakness, Wrist drop, Scoli...	OMIM:616852
Stargardt Disease	Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment...	ORPHA:827
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Abnormal circulating enzyme concentration or a...	ORPHA:168486
Autosomal Recessive Spastic Paraplegia Type 78	Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Neurogenic bladder, Babinski sign, Ab...	ORPHA:513436
Japanese Encephalitis	Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Respiratory paralysis, Meningitis, Infectious ...	ORPHA:79139
Triosephosphate Isomerase Deficiency	Optic disc pallor, Dystonia, Respiratory insufficiency due to muscle weakness, Kyphosis, Jaundice...	OMIM:615512
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Epicanthus, Ataxia, Elevated circulating aspartate aminotransferase concentra...	OMIM:611182
Autosomal Recessive Centronuclear Myopathy	Waddling gait, Facial palsy, Hyperlordosis, Gowers sign, Progressive muscle weakness, Ophthalmopl...	ORPHA:169186
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Morm Syndrome	Truncal obesity, Micropenis, Retinal atrophy, Retinal dystrophy	ORPHA:75858
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Unsteady gait, Spastic tetraple...	ORPHA:1947
Cantu Syndrome	Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Metaphyseal widening, Cuboid-shap...	OMIM:239850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H	Macular degeneration	OMIM:619764
Spinocerebellar Ataxia 46	Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne...	OMIM:617770
Indolent Systemic Mastocytosis	Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Recurrent respiratory infections, Short stature, Short neck, Cerebral atrophy...	ORPHA:320385
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Delayed CNS myelination, Poor head control, Dystonia, Involuntary movements, ...	OMIM:617493
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Spinocerebellar Ataxia, Autosomal Recessive 32	Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ...	OMIM:619862
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Choanal atresia, Prominent nasal bridge, Cerebral at...	OMIM:615095
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination, Hypoesthesia, Vocal cord paralysis, Hand parest...	OMIM:162500
Infantile Refsum Disease	Hepatomegaly, Ataxia, Facial palsy, Short stature, Progressive muscle weakness, Optic atrophy, Sp...	ORPHA:772
Immunodeficiency 83, Susceptibility To Viral Infections	Confusion, Herpes simplex encephalitis, Hemiparesis, Gliosis, Mental deterioration, Meningitis	OMIM:613002
Spinocerebellar Ataxia, Autosomal Recessive 15	Cerebellar atrophy, Unsteady gait, Ataxia, Gait ataxia	OMIM:615705
Spinocerebellar Ataxia 50	Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax...	OMIM:620158
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Felty Syndrome	Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Osteolysis, Synovitis, Arthritis, B...	ORPHA:47612
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Somatic sensory dysfunction, Optic atrophy, Spasticity, Gait ataxia, Hepat...	ORPHA:466794
Brunet-Wagner Neurodevelopmental Syndrome	Cerebellar atrophy, Optic atrophy, Wide nasal bridge, Cerebral atrophy, Thin eyebrow	OMIM:619690
Central Areolar Choroidal Dystrophy	Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ...	ORPHA:75377
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bifid scrotum, Clonus, High, narrow palate, Synophrys, Abnormal curvature of the verte...	OMIM:619475
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Generalized muscle weakness, Optic atrophy, Abnormal pyramidal sign, ...	OMIM:256600
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Distal Anoctaminopathy	Waddling gait, Proximal muscle weakness in upper limbs, Progressive muscle weakness, Progressive ...	ORPHA:399096
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Ataxia, Portal hypertension, Cerebral dysmyelination, Cryptorchidism, Hepatosplenomegaly, Myoclon...	OMIM:609136
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ...	OMIM:210000
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Cerebellar atrophy, Ataxia, Ophthalmoplegia, Babinski sign, Cerebral atrophy, Dysmetria, Axonal l...	OMIM:618170
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph...	OMIM:143200
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism, Optic a...	ORPHA:496790
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Short stature, Proteinuria, Minimal change glomerulonephritis, Stage 5 chroni...	OMIM:301006
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612287
Spinocerebellar Ataxia Type 42	Cerebellar atrophy, Resting tremor, Psoriasiform dermatitis, Urinary incontinence, Upper limb pos...	ORPHA:458803
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Pontocerebellar Hypoplasia, Type 1D	Cerebellar atrophy, Recurrent respiratory infections, Epicanthus, Poor head control, Short neck, ...	OMIM:618065
Spinocerebellar Ataxia Type 14	Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a...	ORPHA:98763
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Cryptorchidism, Growth delay, 3-Methylglutaconic aciduria, Intrauterin...	ORPHA:1194
Spinocerebellar Ataxia 11	Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun...	OMIM:604432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Proximal muscle weakness, Kyph...	OMIM:606612
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Slurred speech, Limb a...	ORPHA:284289
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Hepatomegaly, Dystonia, Ataxia, Ophthalmoplegia, Babinski sign, Optic atrophy...	OMIM:618226
Cerebellar Atrophy, Developmental Delay, And Seizures	Cerebellar atrophy	OMIM:617643
Crigler-Najjar Syndrome	Jaundice, Ophthalmoparesis, Abnormality of the liver, Cognitive impairment, Memory impairment, In...	ORPHA:205
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration	OMIM:609021
Spastic Paraplegia 79B, Autosomal Recessive	Hoffmann sign, Impaired proprioception, Dysmetria, Loss of ambulation, Intention tremor, Impaired...	OMIM:615491
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly...	ORPHA:157798
Machado-Joseph Disease	Gliosis, Urinary bladder sphincter dysfunction, Impaired vibratory sensation, Ataxia, Parkinsonis...	OMIM:109150
Spastic Paraplegia 20, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Short stature, Kyphoscoliosis, Abnormal cerebellum mor...	OMIM:275900
Mitochondrial Complex Iv Deficiency, Nuclear Type 11	Dilated fourth ventricle, Torticollis, Foot dorsiflexor weakness, Ataxia, Babinski sign, Choreoat...	OMIM:619054
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Cerebellar atrophy	OMIM:615596
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di...	ORPHA:98764
Cog7-Cdg	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Short neck, Postnatal growth ret...	ORPHA:79333
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Proximal muscle weakness, Tremor, Abnormal pyramidal sign, Progressive cerebe...	ORPHA:139485
Ataxia-Telangiectasia-Like Disorder	Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Short stature...	ORPHA:251347
Night Blindness, Congenital Stationary, Type 1D	Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re...	OMIM:613830
Spinocerebellar Ataxia, Autosomal Recessive 26	Cerebellar atrophy, Distal muscle weakness, Impaired distal proprioception, Impaired distal vibra...	OMIM:617633
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hyperlordosis, Gowers sign, Progressive muscle weakness, Depressed nasal ridge, Growth delay, Hig...	OMIM:600462
Ceroid Lipofuscinosis, Neuronal, 1	Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera...	OMIM:256730
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Increased circulating lactate dehydrogenase concentration, Frequent falls, Bilateral ptosis, Limb...	ORPHA:254361
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Short stature, Delayed peripheral myelina...	ORPHA:464282
Muscular Dystrophy, Congenital, With Or Without Seizures	Ataxia, Proximal muscle weakness, Progressive muscle weakness, Mental deterioration, Loss of ambu...	OMIM:620166
Spinocerebellar Ataxia, Autosomal Recessive 14	Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent...	OMIM:615386
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Increased uri...	OMIM:252160
Tay-Sachs Disease	Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Aspiration pneumonia, Progressive spasticity, L...	ORPHA:845
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Clinodactyly, Osteoporosis	OMIM:614838
Fragile X Tremor/Ataxia Syndrome	Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Premature ovarian insufficiency, Po...	OMIM:300623
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Osteoporosis, Camptodactyly	OMIM:616006
Adrenomyeloneuropathy	Peripheral axonal degeneration, Back pain, Urinary incontinence, Axonal degeneration, Urinary bla...	ORPHA:139399
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath...	OMIM:182815
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration	OMIM:617879
Spinocerebellar Ataxia 2	Urinary incontinence, Dysmetria, Urinary bladder sphincter dysfunction, Impaired vibratory sensat...	OMIM:183090
X-Linked Intellectual Disability, Hedera Type	Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s...	ORPHA:93952
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Diffuse cerebral atrophy, Urinary incontinence, Synophrys, Gliosis, Tongue fasciculations, Ataxia...	OMIM:617193
Congenital Disorder Of Glycosylation, Type Iin	Cerebellar atrophy, Poor head control, Short stature, Inability to walk, Cerebral atrophy, Recurr...	OMIM:616721
Machado-Joseph Disease Type 3	Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia,...	ORPHA:276244
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Menkes Disease	Joint laxity, Decreased circulating ceruloplasmin concentration, Metaphyseal spurs, Metaphyseal w...	OMIM:309400
Cln5 Disease	Cerebellar atrophy, Abnormal central motor function, Ataxia, Corpus callosum atrophy, Atrophy/Deg...	ORPHA:228360
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Developmental And Epileptic Encephalopathy 44	Cerebellar atrophy, Delayed CNS myelination, Short stature, Cerebral atrophy, Athetosis, Dystonia...	OMIM:617132
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Bardet-Biedl Syndrome 2	External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration	OMIM:615981
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Cerebellar atrophy, Epicanthus, Bulbar palsy, Ataxia, Short stature, Torticollis, Anteverted nare...	OMIM:618547
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy...	ORPHA:508
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro...	OMIM:615490
Typhoid	Hepatomegaly, Skin rash, Ataxia, Epistaxis, Tremor, Splenomegaly, Hypertonia, Infectious encephal...	ORPHA:99745
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cerebral atrophy, ...	OMIM:610333
Pontocerebellar Hypoplasia, Type 6	Cerebellar atrophy, Appendicular spasticity, Poor head control, Cerebellar vermis hypoplasia, Low...	OMIM:611523
Peho-Like Syndrome	Cerebellar atrophy, Epicanthus, Optic atrophy, Myoclonus, Short nose	OMIM:617507
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Delayed CNS myelination, Highly arched eyebrow, Spastic tetraparesis, Cerebral atrophy, Growth de...	OMIM:616154
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Pontocerebellar Hypoplasia, Type 1E	Cerebellar atrophy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Myoclonus	OMIM:619303
Cone-Rod Dystrophy 11	Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy	OMIM:610381
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig...	ORPHA:284324
Cog5-Cdg	Cerebellar atrophy, Hepatomegaly, Diffuse cerebral atrophy, Elevated hepatic transaminase, Short ...	ORPHA:263487
Aminoacylase 1 Deficiency	Cerebellar atrophy, Delayed CNS myelination, Wide nasal bridge, Cerebral atrophy, Cerebral cortic...	OMIM:609924
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Cerebellar atrophy, Recurrent respiratory infections, Ataxia, Prominent nasal bridge, Babinski si...	OMIM:618356
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislocation, ...	OMIM:616507
Charcot-Marie-Tooth Disease, Type 4J	Distal muscle weakness, Distal sensory impairment, Axonal loss, Peripheral hypomyelination, Gait ...	OMIM:611228
Galactosemia Iv	Cataract	OMIM:618881
Geroderma Osteodysplasticum	Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Recurrent fract...	OMIM:231070
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Cerebellar atrophy, Epicanthus, Delayed CNS myelination, Ataxia, Involuntary movements, Dystonia,...	OMIM:617804
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Vertebral wedging, Plat...	OMIM:610967
Spinocerebellar Ataxia 1	Chorea, Impaired proprioception, Dysmetria, Spinocerebellar atrophy, Urinary bladder sphincter dy...	OMIM:164400
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures	OMIM:612286
Intellectual Developmental Disorder, Autosomal Dominant 56	High palate, Delayed CNS myelination, Ataxia, Clumsiness, Myoclonus, Ptosis, Inability to walk, D...	OMIM:617854
Spinocerebellar Ataxia Type 29	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu...	ORPHA:208513
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,...	OMIM:616188
Charcot-Marie-Tooth Disease, Type 4B1	Distal muscle weakness, Facial palsy, Proximal muscle weakness, Irregular myelin loops, Distal se...	OMIM:601382
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Un...	OMIM:614871
Filippi Syndrome	Cerebellar atrophy, Underdeveloped nasal alae, Postnatal growth retardation, Cryptorchidism, Opti...	OMIM:272440
Spinocerebellar Atrophy With Pupillary Paralysis	Spinocerebellar atrophy	OMIM:183100
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr...	OMIM:239000
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Short stature, Premature ovarian in...	OMIM:618124
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Volvulus, Left ventricular hypertrophy, Micropenis, De...	ORPHA:335
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Spinocerebellar Ataxia, Autosomal Recessive 18	Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ata...	OMIM:616204
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Cerebellar atrophy, Epicanthus, Delayed CNS myelination, Hypospadias, Prominent nasal bridge, Cry...	OMIM:618659
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Psychomotor deterioration, Peripheral axonal neuropathy, Short attention span...	ORPHA:35069
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Osteolysis, Osteolytic defects of the ...	ORPHA:90154
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Joint stiffness, Flexion contracture, Osteoporosis, Osteolysis, Rib osteo...	OMIM:614008
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr...	ORPHA:91348
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Anteverted nares, Broad nasal tip, Tremor, Optic atrophy, Dysmetria, Gait ata...	ORPHA:529665
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy...	ORPHA:71517
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Dacryocystitis, Unusual CNS infection, Bronchiect...	ORPHA:1163
Zika Virus Disease	Maculopapular exanthema, Skin rash, Acute demyelinating polyneuropathy, Arthritis, Abnormal optic...	ORPHA:448237
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Severe short stature, Ataxia, Optic atrophy, Abnormal pyramidal sign, Cerebra...	OMIM:617951
Intermediate Osteopetrosis	Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ...	ORPHA:210110
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Limb dystonia, Delayed CNS myelination, Short stature, Cerebral atrophy, Clef...	OMIM:620269
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Osteomalacia, Joint stiffness, Coxa valga, Avascular necrosis of the capital femoral ...	ORPHA:1901
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia, ...	OMIM:236200
Myopia 28, Autosomal Recessive	Retinal detachment, Cataract	OMIM:619781
Lissencephaly 4	Short stature, Babinski sign, Wide nasal bridge, Growth delay, Colpocephaly, Hypertonia, Cerebell...	OMIM:614019
Best Vitelliform Macular Dystrophy	Choroideremia, Cystoid macular degeneration	ORPHA:1243
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Hypocalcemia, Hypophosphatemia, Metaphyseal cu...	OMIM:619073
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Short stature, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, ...	OMIM:614381
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Cerebellar atrophy, Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis	OMIM:300861
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Broad-based gait, Ataxia, Spastic tetraparesis, Chorea, Delayed myelination, ...	ORPHA:79097
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leuk...	OMIM:612438
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Peroneal muscle weakness, Proximal muscle weakness, Hyperlordosis, Progressive muscle weakness, G...	OMIM:611588
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic...	ORPHA:198
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Cerebellar atrophy, Progressive external ophthalmoplegia, Broad-based gait, Ataxia, Neck flexor w...	OMIM:618098
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Tremor, Gowers sign, Chorea, Hepatic steatosis, Waddling gait, Hepatomegaly, Ataxia, Short statur...	OMIM:615356
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Synophrys, High palate, Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Short stature, Hyperlordos...	OMIM:618443
Kerion Celsi	Lymphadenopathy	ORPHA:499
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hypermanganesemia With Dystonia 2	Progressive neurologic deterioration, Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinso...	OMIM:617013
Distal Myopathy With Anterior Tibial Onset	Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive p...	ORPHA:178400
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Usher Syndrome, Type Iv	Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re...	OMIM:618144
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Inability to walk, Wide nasal bridge, Astrocytosis, Nephrocalcinosis, Difficulty walking	OMIM:611087
Leukodystrophy, Hypomyelinating, 5	Lower limb muscle weakness, Truncal titubation, Abnormal cerebellum morphology, Babinski sign, Ab...	OMIM:610532
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Confusion, Herpes simplex encephalitis, Hemiparesis, Mental deterioration, Meningitis	OMIM:617900
Christianson Syndrome	Cerebellar atrophy, Dystonia, Abnormality of the nose, Ophthalmoplegia, Gait ataxia, Truncal atax...	ORPHA:85278
Morgagni-Stewart-Morel Syndrome	Osteoarthritis, Osteoporosis, Hyperostosis frontalis interna, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Coats Disease	Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Hereditary Methemoglobinemia	Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Spastic tetraplegia, Spastici...	ORPHA:621
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Scoliosis, Limb d...	OMIM:619125
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy...	ORPHA:157965
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Progressive Myoclonic Epilepsy Type 3	Cerebellar atrophy, Progressive truncal ataxia, Optic atrophy, Progressive psychomotor deteriorat...	ORPHA:263516
Intellectual Developmental Disorder, X-Linked 104	Delayed CNS myelination, Ataxia, Tremor, Bifid nasal tip, Optic atrophy, Wide nasal bridge, High ...	OMIM:300983
Dent Disease 1	Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Poliomyelitis	Bulbar palsy, Confusion, Lower limb muscle weakness, Paralysis, Inability to walk, Paraparesis, U...	ORPHA:2912
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Legionnaires Disease	Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Recurrent pharyngitis, Myocarditis, Splen...	ORPHA:549
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Coenzyme Q10 Deficiency, Primary, 8	Postnatal growth retardation, Abnormal renal corticomedullary differentiation, Intrauterine growt...	OMIM:616733
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Optic atrophy, Abnormal pyramidal sign, Cerebral atrophy, Tetraplegia, Dyston...	OMIM:300475
Liang-Wang Syndrome	Cerebellar atrophy, Ataxia, Synophrys, Wide nasal bridge, Cerebral atrophy, Macroglossia, Dystoni...	OMIM:618729
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects...	ORPHA:90153
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Osteopenia	OMIM:615266
Methylcobalamin Deficiency Type Cble	Syndactyly, Macrocytic anemia, Pancytopenia, Hypomethioninemia, Osteoporosis, Hyperhomocystinemia...	ORPHA:2169
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries...	ORPHA:2298
Intellectual Developmental Disorder, Autosomal Recessive 68	Cerebellar atrophy, Broad eyebrow, Synophrys, Wide nasal bridge, Narrow palpebral fissure, Muscle...	OMIM:618302
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Fractu...	ORPHA:464329
Rhyns Syndrome	Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Smal...	ORPHA:140976
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Malabsorption, Lymphadenopathy	ORPHA:42642
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Mucopolysaccharidosis, Type Iva	Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Kyp...	OMIM:253000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v...	ORPHA:94124
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Hyperphos...	OMIM:103580
Mucopolysaccharidosis, Type Ivb	Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Epiphyseal deform...	OMIM:253010
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Optic disc pallor, Os odontoideum, Delayed CNS myelination, Ataxia, Short sta...	OMIM:619260
Mucolipidosis Iv	Cerebellar atrophy, Cerebral dysmyelination, Progressive neurologic deterioration, Dysplastic cor...	OMIM:252650
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Facial palsy, Hyperlordosis, Protruding tongue, Intercostal muscle weakness, Inability ...	ORPHA:258
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Impaired ...	OMIM:607080
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Progressive muscle weakness, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Sho...	ORPHA:264580
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Thoracic sc...	ORPHA:254930
Infantile Cerebellar-Retinal Degeneration	Cerebellar atrophy, Ataxia, Optic atrophy, Athetosis, Cerebral cortical atrophy, Demyelinating pe...	OMIM:614559
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma	ORPHA:231736
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Short stature, Female infertility, Progressive muscle weakness, ...	OMIM:619518
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Hallux valgus, Thoracic scoliosis, Facet joint arthrosis, Osteoarthritis, Osteoporosi...	OMIM:618000
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Sinusitis, P...	ORPHA:68
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Osteomyelitis, Ataxia, Distal muscle weak...	OMIM:614116
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Distal muscle weakness, Urinary incontinence, Axonal degeneration...	OMIM:604320
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Neurodevelopmental Disorder With Dystonia And Seizures	Cerebellar atrophy, Chorea, Spastic tetraplegia, Athetosis, Cerebellar hypoplasia, Dystonia, Intr...	OMIM:619922
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Osteoporosis	OMIM:601979
Retinitis Pigmentosa 4	Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro...	OMIM:613731
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebellar atrophy, Delayed CNS myelination, Clonus, Spastic tetraparesis, Inability to walk, Opt...	OMIM:617481
Succinic Semialdehyde Dehydrogenase Deficiency	Cerebellar atrophy, Elevated urinary 4-hydroxybutyric acid, Delayed CNS myelination, Ataxia, Incr...	OMIM:271980
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:97290
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Ataxia, Splenomegaly, Kyphosis, Progressive psych...	ORPHA:796
Isolated Atp Synthase Deficiency	Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Ophthalmoplegia, Spastic paraplegia, Opt...	ORPHA:254913
Diffuse Cutaneous Systemic Sclerosis	Narrow foramen obturatorium, Arthritis, Flexion contracture, Osteolysis	ORPHA:220393
Spinocerebellar Ataxia 21	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Akinesia, Lim...	OMIM:607454
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia	ORPHA:284271
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal muscle weakness, Proteinuria, Stage 5 chronic kidney disease, Distal sensory impairment, F...	OMIM:614455
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I...	ORPHA:1473
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus...	OMIM:166260
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:319487
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Optic disc pallor, Abnormal circulating enzyme concentration or activity, Poo...	ORPHA:79264
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, High palate...	OMIM:269920
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Kyphosis, Bone cyst, Flexion contractu...	ORPHA:3042
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Waddling gait, Lower limb spasticity, Bulbar palsy, Broad-based gait, Hyperlordosis, Kyphosis, Go...	OMIM:615290
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Prune1-Related Neurological Syndrome	Cerebellar atrophy, Clonus, Spastic tetraparesis, Inability to walk, Delayed myelination, Optic a...	ORPHA:544469
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Ataxia, Short stature, Prominent nasal bridge, Prominent nose, Inability to w...	OMIM:619576
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Dilated fourth ventricle, Poor head control, Cerebellar vermis hypoplasia, At...	ORPHA:572798
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture	OMIM:615381
Spinocerebellar Ataxia Type 40	Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro...	ORPHA:423275
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Dystonia 1, Torsion, Autosomal Dominant	Cerebellar atrophy, Torticollis, Generalized dystonia, Facial palsy, Writer's cramp, Hyperlordosi...	OMIM:128100
Cln3 Disease	Cerebellar atrophy, Extrapyramidal muscular rigidity, Acne, Ataxia, Optic atrophy, Loss of ambula...	ORPHA:228346
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands	ORPHA:50811
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Vertebral wedgi...	OMIM:301014
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome	Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Hypoparathyroidism, Spastic tet...	ORPHA:496756
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Mepan Syndrome	Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Cranio...	ORPHA:508093
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Wide nasal ridge, Bulbous nose, Ba...	OMIM:612936
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity	OMIM:616494
Pai Syndrome	Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m...	ORPHA:1993
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Horseshoe kidney, C...	OMIM:617664
Jaberi-Elahi Syndrome	Appendicular spasticity, Broad-based gait, Distal muscle weakness, Sparse eyelashes, Depressed na...	OMIM:617988
Mannosidosis, Alpha B, Lysosomal	Increased vertebral height, Abnormal pyramidal sign, Depressed nasal ridge, Gait ataxia, Gliosis,...	OMIM:248500
Finnish Upper Limb-Onset Distal Myopathy	Progressive distal muscle weakness, Progressive proximal muscle weakness, Clumsiness, Distal sens...	ORPHA:399086
Nephronophthisis 15	Obesity, Retinal degeneration	OMIM:614845
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Ankylosis, Osteolysis	ORPHA:659
Spinocerebellar Ataxia 32	Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Cognitive impairment, Testicular atrophy	OMIM:613909
Leukodystrophy, Hypomyelinating, 20	Cerebellar atrophy, Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis, Dysto...	OMIM:619071
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut...	ORPHA:281090
Neurodegeneration With Brain Iron Accumulation 4	Cerebellar atrophy, Abnormal lower motor neuron morphology, Distal muscle weakness, Ataxia, Parki...	OMIM:614298
Machado-Joseph Disease Type 1	Cerebellar atrophy, Dilated fourth ventricle, Progressive external ophthalmoplegia, Substantia ni...	ORPHA:276238
Machado-Joseph Disease Type 2	Cerebellar atrophy, Dilated fourth ventricle, Progressive external ophthalmoplegia, Substantia ni...	ORPHA:276241
Myopathy With Extrapyramidal Signs	Clonus, Short neck, Tremor, Gowers sign, Chorea, Choreoathetosis, Cerebellar dysplasia, Hepatomeg...	OMIM:615673
Brown-Vialetto-Van Laere Syndrome 1	Vocal cord paralysis, Tongue fasciculations, Bulbar palsy, Ataxia, Facial palsy, External ophthal...	OMIM:211530
Perlman Syndrome	Hepatomegaly, Epicanthus, Hypoplasia of penis, Anteverted nares, Cryptorchidism, High, narrow pal...	ORPHA:2849
Autosomal Dominant Optic Atrophy, Classic Form	Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Ophthalmoplegia, Spastic paraplegia, Optic a...	ORPHA:98673
Spinocerebellar Ataxia 34	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G...	OMIM:133190
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage	ORPHA:2867
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration	OMIM:614292
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis...	OMIM:230600
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atro...	OMIM:617710
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased testicular size, Small scrotum, Short stature, Anteverted nares, Pr...	OMIM:615663
Lethal Congenital Contracture Syndrome 8	Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peripheral hypomyelination, Neo...	OMIM:616287
Tangier Disease	Hepatomegaly, Peripheral axonal neuropathy, Impaired pain sensation, Impaired temperature sensati...	OMIM:205400
Charcot-Marie-Tooth Disease Type 4C	Gait ataxia, Tongue fasciculations, Head tremor, Foot dorsiflexor weakness, Impaired distal vibra...	ORPHA:99949
Senior-Loken Syndrome	Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis...	ORPHA:3156
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,...	ORPHA:352403
Lethal Congenital Contracture Syndrome 7	Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis	OMIM:616286
Aceruloplasminemia	Tremor, Chorea, Gait ataxia, Hepatic fibrosis, Elevated hepatic iron concentration, Ataxia, Parki...	ORPHA:48818
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Cleidocranial Dysplasia	Hypoplastic scapulae, Recurrent fractures, Down-sloping shoulders, Tapered finger, Abnormal thumb...	ORPHA:1452
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Hypertonia, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, ...	ORPHA:309854
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Developmental And Epileptic Encephalopathy 98	Cerebellar atrophy, Attention deficit hyperactivity disorder, Cerebral atrophy	OMIM:619605
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Osteoporosis	OMIM:610628
Spondylo-Ocular Syndrome	Thoracic kyphosis, Platyspondyly, Osteoporosis, Joint hyperflexibility	ORPHA:85194
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Cerebellar atrophy, Cryptorchidism, Chorea, Inability to walk, Cerebral atrophy, Gait ataxia, Dys...	OMIM:618917
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Distal muscle weakness, Upper limb muscle weakness, Peripheral hypomyelination, Onion bulb format...	OMIM:605253
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Cerebellar vermis hypoplasia, Short neck, Glossoptosis, Vertebral segmentatio...	OMIM:611209
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Hyperkinetic movements, Scoliosis...	ORPHA:369847
Cone-Rod Dystrophy 24	Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener...	OMIM:620342
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral...	OMIM:601104
Leigh Syndrome	Progressive neurologic deterioration, Chorea, Choreoathetosis, Gliosis, Complex organic aciduria,...	ORPHA:506
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Ruijs-Aalfs Syndrome	Thoracic kyphoscoliosis, Down-sloping shoulders, Elbow flexion contracture, Osteoporosis, Clinoda...	OMIM:616200
Spinocerebellar Ataxia Type 32	Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Cognitive impai...	ORPHA:276183
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Ba...	OMIM:615838
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Retinitis Pigmentosa 68	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy	OMIM:615725
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Short stature, Depressed nasal bridge, Hypospadias, Tremor, Cryptorchidism, Kyphosis, Bulbous nos...	OMIM:300354
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Distal Myotilinopathy	Progressive proximal muscle weakness, Loss of ability to walk in first decade, Progressive distal...	ORPHA:98911
Takenouchi-Kosaki Syndrome	Synophrys, Ataxia, Hypospadias, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Wide nasal...	OMIM:616737
Immunodeficiency 12	Abnormal lymphocyte count, Clubbing, Osteoporosis, Absent isohemagglutinin level, Complete or nea...	OMIM:615468
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Thrombocyto...	OMIM:613101
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Long fingers, Osteoporosis, Hip dislocation, Hip dysplasia, Clinodactyly, Hip sub...	ORPHA:447980
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration	OMIM:600977
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, High palate, Bifid uvula	OMIM:155145
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Hypergo...	OMIM:615084
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Osteoporosis, Short metatarsal, Hyperphosphatemia, Hypocalcemia, Hypocalcemic t...	OMIM:612462
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Recurrent pharyngitis, Fulminant hepatitis, Splen...	OMIM:308240
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,...	ORPHA:49382
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia	ORPHA:276630
Focal Cortical Dysplasia, Type Ii	Hemiparesis, Cognitive impairment, Astrocytosis	OMIM:607341
Cofs Syndrome	Short stature, Short neck, Abnormal nasal morphology, Optic atrophy, Wide nasal bridge, Hypertoni...	ORPHA:1466
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Short stature, Absent pubertal growth spurt, Gait ataxia, Neurodegeneration	ORPHA:438134
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Conjunctival telangiectasia, Peripheral axonal neuropathy, Distal muscle weak...	OMIM:606002
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Cerebellar atrophy, Increased urine alpha-ketoglutarate concentration, Increased urine succinate ...	OMIM:618384
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Listeriosis	Back pain, Liver abscess, Tremor, Conjunctivitis, Cholecystitis, Meningitis, Infectious encephali...	ORPHA:533
Retinitis Pigmentosa 40	Bone spicule pigmentation of the retina, Cataract	OMIM:613801
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Dystonia	OMIM:250850
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Synophrys, C...	OMIM:619286
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Cerebral palsy, Short stature, Eczema, Highly arched eyebrow, Anteverted nares, Bilat...	ORPHA:352490
Whipple Disease	Hepatomegaly, Pericarditis, Myositis, Ataxia, Malabsorption, Myocarditis, Splenomegaly, Abnormal ...	ORPHA:3452
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Osteoporosis, Hypocholesterolemia	OMIM:266510
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Poor head control, Ataxia, Inability to walk, Short nose, Dysmetria, Upslanted palpebral fissure,...	OMIM:618087
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype...	ORPHA:64743
Spinocerebellar Ataxia 10	Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,...	OMIM:603516
Spinocerebellar Ataxia 36	Cerebellar atrophy, Tongue atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait atax...	OMIM:614153
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Increase...	ORPHA:2769
Premature Aging Syndrome, Okamoto Type	Osteoporosis	OMIM:601811
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Kyphoscoliosis, P...	OMIM:607831
Lyme Disease	Uveitis, Arthritis, Paresthesia, Memory impairment, Meningitis, Infectious encephalitis, Muscle w...	ORPHA:91546
46,Xx Testicular Difference Of Sex Development	Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries	ORPHA:393
Developmental And Epileptic Encephalopathy 28	Anteverted nares, Optic atrophy, Cerebral atrophy, Long philtrum, Retinal degeneration	OMIM:616211
Peroxisome Biogenesis Disorder 5B	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Decreased liver function, Oculomoto...	OMIM:614867
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Cerebellar atrophy, Kyphosis, Cryptorchidism, Cerebral atrophy, Scoliosis, Long palpebral fissure...	OMIM:619797
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Cerebellar atrophy, Poor head control, Depressed nasal bridge, Inability to walk, Short nose, Vol...	OMIM:617802
Gm1-Gangliosidosis, Type Iii	Diffuse cerebral atrophy, Dystonia, Ataxia, Short stature, Kyphosis, Slurred speech, Platyspondyl...	OMIM:230650
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Parkinsonism, Frontotemporal dementia, Temporal cortical ...	ORPHA:100070
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Srd5A3-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Ataxia, Decreased response to growth hormone s...	ORPHA:324737
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Cerebellar atrophy, Epicanthus, Anteverted nares, Spastic tetraparesis, Short nose	OMIM:618506
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i...	ORPHA:397596
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy...	OMIM:616811
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Elevated hepatic transaminase, Epicanthus, Delayed CNS myelination, Ataxia, D...	OMIM:615471
Spinocerebellar Ataxia Type 18	Cerebellar atrophy, Peripheral axonal neuropathy, Somatic sensory dysfunction, Dysmetria, Gait at...	ORPHA:98771
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, Proximal muscle weakness, Optic atrophy, CNS hypomyelination, Focal segmental...	OMIM:616239
Peho Syndrome	Cerebellar atrophy, Epicanthus, Optic atrophy, Myoclonus, Peripheral dysmyelination, Short nose, ...	OMIM:260565
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Kyphosis, Tongue fasciculations, Narrow mouth, Failure to thrive	OMIM:620007
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Spinocerebellar Ataxia 47	Ataxia, Short stature, Chorea, Wide nasal bridge, Dysmetria, High palate, Spasticity, Cerebellar ...	OMIM:617931
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis	OMIM:257200
Galloway-Mowat Syndrome 6	Cerebellar atrophy, Epicanthus, Short stature, Decreased response to growth hormone stimulation t...	OMIM:618347
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Hepatomegaly, Delayed CNS myelination, Depressed nasal bridge, Short neck, Ky...	OMIM:608776
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Cerebellar vermis hypoplasia, Short neck, Tremor, High, narrow palate, Synophrys, Prominent protr...	OMIM:300966
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Cerebellar atrophy, Poor head control, Short stature, Prominent nasal bridge, Cerebral atrophy, M...	OMIM:619060
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Kniest Dysplasia	Hip contracture, Tracheomalacia, Dumbbell-shaped long bone, Delayed epiphyseal ossification, Limi...	OMIM:156550
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Multifocal Motor Neuropathy	Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness, Fasciculat...	ORPHA:641
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Spinocerebellar Ataxia Type 19/22	Cerebellar atrophy, Broad-based gait, Ataxia, Urinary incontinence, Ophthalmoplegia, Poor coordin...	ORPHA:98772
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Abnormal pyramidal sign, Tetraplegia,...	ORPHA:369939
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero...	OMIM:203780
Dpm1-Cdg	Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Depre...	ORPHA:79322
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Nipah Virus Disease	Tremor, Recurrent pharyngitis, Infectious encephalitis, Myoclonus	ORPHA:99825
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Recurrent respiratory infections, Ataxia, Splenomegaly, Unsteady gait, Gait d...	ORPHA:2585
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Wide anterior fontanel, Abnormal cortic...	OMIM:614886
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Esophageal varix, Portal hypertension, Hepatomegaly	OMIM:617068
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Cerebellar atrophy, Short stature, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Crypt...	ORPHA:3085
Lipoid Proteinosis	Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver...	ORPHA:530
Boucher-Neuhauser Syndrome	Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ...	OMIM:215470
Bethlem Myopathy	Waddling gait, Reduced maximal expiratory pressure, Lumbar hyperlordosis, Distal muscle weakness,...	ORPHA:610
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Cerebellar atrophy, Ataxia, Inability to walk, Gait ataxia, High palate	OMIM:617915
Propionic Acidemia	Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:606054
Familial Isolated Hyperparathyroidism	Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia	ORPHA:99879
Spinocerebellar Ataxia 29	Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Limb ...	OMIM:117360
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper...	OMIM:235200
Ataxia-Pancytopenia Syndrome	Cerebellar atrophy, Ataxia, Unsteady gait, Impaired vibration sensation in the lower limbs, Babin...	OMIM:159550
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Villous atro...	OMIM:209920
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis	OMIM:268650
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal varix, Renal hypoplasia,...	OMIM:616589
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Hypogonadism, Decreased testicular size	ORPHA:1875
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Chromomycosis	Ankylosis, Osteolysis	ORPHA:182
X-Linked Intellectual Disability, Stocco Dos Santos Type	Small for gestational age, Kyphosis, Short stature	ORPHA:85288
Lipoyltransferase 1 Deficiency	Cerebellar atrophy, Elevated hepatic transaminase, Delayed CNS myelination, Spastic tetraparesis,...	OMIM:616299
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Cerebellar Atrophy With Seizures And Variable Developmental Delay	Ataxia, Inability to walk, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy	OMIM:618501
Pontocerebellar Hypoplasia, Type 1B	Cerebellar atrophy, Poor head control, Tongue atrophy, Cerebral atrophy, Growth delay, Tongue fas...	OMIM:614678
Spinocerebellar Ataxia Type 26	Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi...	ORPHA:101112
Developmental And Epileptic Encephalopathy 51	Cerebellar atrophy, Delayed CNS myelination, Poor head control, Supernumerary nipple, Corpus call...	OMIM:617339
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Short thumb, Osteoporosis, Increased mean corpuscular volume, Scol...	OMIM:612562
Neurocutaneous Melanocytosis	Hemiparesis, Chiari malformation, Aplasia/Hypoplasia of the cerebellum, Infectious encephalitis, ...	ORPHA:2481
Mevalonic Aciduria	Cerebellar atrophy, Optic disc pallor, Elevated hepatic transaminase, Agenesis of cerebellar verm...	OMIM:610377
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Reduced bone ...	ORPHA:1508
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia	OMIM:613313
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Cataract, Iris coloboma	OMIM:120433
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Spinocerebellar Ataxia 27B, Late-Onset	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia	OMIM:620174
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Xerostomia, Weight loss, Macroglossi...	ORPHA:85443
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Incontinentia Pigmenti	Skin rash, Short stature, Supernumerary nipple, Keratitis, Hemiplegia/hemiparesis, Uveitis, Gait ...	ORPHA:464
Amish Nemaline Myopathy	Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Tremor	ORPHA:98902
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata	OMIM:193230
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Cuboid...	ORPHA:1517
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Scoliosis	OMIM:615066
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Decreased activi...	ORPHA:431361
Ovarian Dysgenesis 8	Osteoporosis	OMIM:618187
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Splenomegaly, Osteolysis, Elevated circulating uroporphyrin concent...	OMIM:263700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Cardiomegaly	ORPHA:88643
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Bowing of the long bones, Generalized ...	OMIM:613848
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity	ORPHA:90654
Developmental And Epileptic Encephalopathy 67	Cerebellar atrophy, Athetosis, Gait disturbance, Dystonia	OMIM:618141
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Trimethylaminuria	OMIM:602079
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Epicanthus, Thick eyebrow, Short stature, Cerebral palsy, Highly arched eyeb...	OMIM:615834
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Ataxia, Splenomegaly, Jaundice, Tetrapleg...	OMIM:603553
Combined Oxidative Phosphorylation Deficiency 49	Progressive muscle weakness, Difficulty walking	OMIM:619024
Distal Nebulin Myopathy	Neck flexor weakness, Progressive distal muscle weakness, Progressive proximal muscle weakness, H...	ORPHA:399103
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome	Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G...	ORPHA:445062
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Lower limb spasticity, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Gowers sign, Prox...	OMIM:617404
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent...	OMIM:619007
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Cataract	ORPHA:2278
Superficial Siderosis	Back pain, Impaired temperature sensation, Functional abnormality of the bladder, Abnormal pyrami...	ORPHA:247245
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Dk1-Cdg	Elevated hepatic transaminase, Progressive muscle weakness, Short stature, Abnormal circulating e...	ORPHA:91131
Alexander Disease Type I	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor	ORPHA:363717
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Cockayne Syndrome A	Abnormal peripheral myelination, Prominent nose, Tremor, Micropenis, Hepatomegaly, Ataxia, Short ...	OMIM:216400
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Congenital pyloric atre...	ORPHA:2617
Spinocerebellar Ataxia, Autosomal Recessive 7	Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un...	OMIM:609270
Pontocerebellar Hypoplasia, Type 2E	Cerebellar atrophy, Epicanthus, Wide nose, Short stature, Optic atrophy, Spastic tetraplegia, Cer...	OMIM:615851
Alg1-Cdg	Cerebellar atrophy, Renal insufficiency, Kyphosis, Cerebral atrophy, Recurrent infections, Nephro...	ORPHA:79327
Adenylosuccinase Deficiency	Cerebellar atrophy, Anteverted nares, Inability to walk, Cerebral atrophy, CNS hypomyelination, G...	OMIM:103050
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic ...	OMIM:619738
Xp21 Deletion Syndrome	Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo...	ORPHA:261476
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline	Cerebellar atrophy, Dystonia, Clonus, Urinary incontinence, Babinski sign, Optic atrophy, Progres...	OMIM:618868
Hartnup Disease	Glossitis, Abnormal urinary color, Skin rash, Ataxia, Short stature, Malabsorption, Infectious en...	ORPHA:2116
Cognitive Impairment With Or Without Cerebellar Ataxia	Cerebellar atrophy, Ataxia, Optic nerve hypoplasia, Dysmetria, Gait ataxia, Attention deficit hyp...	OMIM:614306
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly	OMIM:608540
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Bulbous nose, Optic atrophy, Sp...	OMIM:618476
Retinitis Pigmentosa 9	Bone spicule pigmentation of the retina, Cataract, Macular atrophy	OMIM:180104
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Cerebellar vermis hypoplasia, Tremor, Dysmetria, Renal cyst, Hepatic fibrosis, H...	OMIM:212065
Developmental And Epileptic Encephalopathy 95	Cerebellar atrophy, Hepatomegaly, Delayed CNS myelination, Ataxia, Highly arched eyebrow, Hypopla...	OMIM:618143
Combined Oxidative Phosphorylation Defect Type 29	Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,...	ORPHA:478029
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Nephropathy, Decre...	ORPHA:85450
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal vertebral mor...	ORPHA:93352
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Meningitis, Infectious encepha...	ORPHA:36234
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Retinitis Pigmentosa 84	Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma	OMIM:618220
Nasu-Hakola Disease	Bone cyst, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density, Abnormal e...	ORPHA:2770
Macular Dystrophy, Vitelliform, 3	Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ...	OMIM:608161
Preeclampsia	Helicobacter pylori infection, Proteinuria, Chronic kidney disease, Polycystic ovaries, Abnormali...	ORPHA:275555
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Pyloric stenosis	ORPHA:664
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Clinodactyly of the 5th finger, Clinodactyly, Osteoporosis, Neonatal hyperbilirubinemia	ORPHA:73272
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Liver abscess, Arachnodactyly, Osteolysis	ORPHA:678
Immunoneurologic Disorder, X-Linked	Neonatal death, Progressive proximal muscle weakness, Spastic paraplegia, Functional abnormality ...	OMIM:300076
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Ataxia, Severe demyelination of the white matter, Hemolytic-uremi...	ORPHA:79282
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Severe short stature, Thoracolumbar sco...	OMIM:313420
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Hypergo...	ORPHA:352447
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki...	OMIM:300894
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Developmental And Epileptic Encephalopathy 89	Cerebellar atrophy, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Sparse eyebr...	OMIM:619124
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal widening, Irre...	OMIM:271640
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Clubbing, Osteolytic defects of the phala...	OMIM:259100
H Syndrome	Hallux valgus, Hypertriglyceridemia, Recurrent fractures, Microcytic anemia, Osteolysis, Hepatosp...	ORPHA:168569
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Renal salt wasting, Renal magnesium was...	ORPHA:199343
Mixed Connective Tissue Disease	Hemolytic anemia, Joint stiffness, Splenomegaly, Osteolysis, Arthritis, Leukopenia	ORPHA:809
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes...	ORPHA:400
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Familial Dysautonomia	Hyponatremia, Recurrent fractures, Osteolysis, Scoliosis	ORPHA:1764
Peroxisome Biogenesis Disorder 11B	Progressive muscle weakness, Muscle weakness, Hepatosplenomegaly	OMIM:614885
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Abnormal salivary gland morphology, Short stature	ORPHA:31
Rafiq Syndrome	Wide nose, Underdeveloped nasolabial fold, Ataxia, Short stature, Highly arched eyebrow, Long eye...	OMIM:614202
Hajdu-Cheney Syndrome	Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Hypoplastic 5th lumbar ...	ORPHA:955
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Camptodactyly	OMIM:618453
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, High, narrow palate, High palate, Micropenis, Short stature, Depressed na...	OMIM:612513
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation, Incre...	OMIM:619405
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Distal muscle weakness, Abnormal peripheral myelination, Abnormality of female exte...	ORPHA:168563
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Classic Galactosemia	Abnormal erythrocyte enzyme level, Osteoporosis, Reduced bone mineral density	ORPHA:79239
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Sparse eyebrow, R...	ORPHA:496641
Arthrogryposis, Distal, Type 2A	Cerebellar atrophy, Recurrent respiratory infections, Epicanthus, Telecanthus, Kyphoscoliosis, Sh...	OMIM:193700
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei...	ORPHA:90796
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Cerebellar atrophy, Highly arched eyebrow, Bilateral ptosis, Partial absence of cerebellar vermis...	ORPHA:329224
Episodic Ataxia Type 1	Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, T...	ORPHA:37612
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy...	OMIM:602390
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Cerebellar atrophy, Inability to walk, Optic atrophy, Recurrent infections, 3-Methylglutaconic ac...	OMIM:614739
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Oromotor apraxia, Hemiparesis, Lateral ventricle dila...	ORPHA:300573
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Cryptorchidism, Cervical spinal canal stenosis, Hypoplasia of the prosta...	OMIM:301900
Bardet-Biedl Syndrome 17	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi...	OMIM:615994
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Osteoporosis, Rickets	OMIM:560000
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Tremor, Myocarditis, Splenomegaly, Meningitis, ...	ORPHA:83317
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Absent foveal reflex, Decreased retinol-binding protein level, Retinal dystrophy, Peripheral reti...	OMIM:615147
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla...	ORPHA:785
Myopathy, Myofibrillar, 4	Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak...	OMIM:609452
Cdkl5-Deficiency Disorder	Poor head control, Impaired pain sensation, Kyphosis, Synophrys, Growth delay, Gait disturbance, ...	ORPHA:505652
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Joint stiffness, Splenomegaly, Reduced bone mineral density, Decreased circulating t...	OMIM:620210
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Somatic sensory dysfunction, Scoliosis, Peripheral dysmyelination, ...	ORPHA:101082
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Kyphosis, Achilles tendon contracture, Osteoporosis, Scolios...	OMIM:620351
Xp22.3 Microdeletion Syndrome	Ectopic anus, Hypogonadotropic hypogonadism, Polycystic ovaries	ORPHA:1643
Ataxia-Telangiectasia-Like Disorder 1	Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,...	OMIM:604391
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Kikuchi-Fujimoto Disease	Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Oral ulcer, We...	ORPHA:50918
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Stuve-Wiedemann Syndrome 1	Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx of finger, Os...	OMIM:601559
Spinocerebellar Ataxia Type 10	Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Unsteady gait, Babinski sign, Dysmetri...	ORPHA:98761
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Retinal degeneration	OMIM:617173
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Distal mu...	ORPHA:298
Congenital Disorder Of Glycosylation, Type Id	Cerebellar atrophy, Epicanthus, Villous atrophy, Depressed nasal bridge, Spastic tetraparesis, Bu...	OMIM:601110
Spinocerebellar Ataxia Type 13	Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Urinary incontinence, Impaired...	ORPHA:98768
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor, Megaloblastic anemia	OMIM:243320
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Tremor, Progressive muscle weakness	OMIM:605355
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Polycystic ovaries	ORPHA:488191
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Episodic Ataxia, Type 6	Cerebellar atrophy, Slurred speech, Hemiparesis, Cerebellar hypoplasia, Truncal ataxia, Episodic ...	OMIM:612656
Macular Degeneration, Age-Related, 3	Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization	OMIM:608895
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz...	OMIM:614500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Recurrent urinary tract infections, Depressed nasal bridge, Hypospadias, Almo...	OMIM:619103
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom...	OMIM:120200
Spinocerebellar Ataxia Type 8	Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Urinary incontinence, Hypoplasia of the...	ORPHA:98760
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Synophrys, Anteverted nares, Hypospadias, Highly arched eyebrow, Narrow n...	OMIM:619293
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria, Jaundice, Hepatomegaly	ORPHA:79238
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Myopathy, Centronuclear, 2	Waddling gait, Distal muscle weakness, Facial palsy, Hyperlordosis, Respiratory insufficiency due...	OMIM:255200
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat...	ORPHA:454836
Hsd10 Mitochondrial Disease	Elevated circulating tiglylglycine concentration, Optic atrophy, Cerebral cortical atrophy, Retin...	OMIM:300438
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Ptosis, Hepatomegaly, Ataxia, Short stature, Micronodular cirrhosi...	ORPHA:98907
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cerebellar atrophy, Ataxia, Babinski sign, Optic atrophy, Dysmetria, Distal sensory impairment, S...	OMIM:612674
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma...	ORPHA:35687
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Thoracolumbar scoliosis, Knee flexion contracture, Hyperostosis	OMIM:606631
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Craniosynostosis, Joint stiffness, Cranial hyperostosis, ...	ORPHA:309282
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Chemosis, Nephritis, Infectious enceph...	ORPHA:73263
Behçet Disease	Myositis, Abnormal pyramidal sign, Meningitis, Infectious encephalitis, Ataxia, Acne, Confusion, ...	ORPHA:117
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cerebellar atrophy, Ataxia, Dysesthesia, Unsteady gait, Optic atrophy, Babinski sign, Limb ataxia...	OMIM:619259
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis, Osteolysis involving ...	ORPHA:464321
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis...	OMIM:618935
Nail-Patella Syndrome	Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, R...	ORPHA:2614
Laryngeal Neuroendocrine Tumor	Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis	OMIM:619718
Benign Schwannoma	Intestinal polyposis, Nasal polyposis, Facial palsy, Abnormality of the twelfth cranial nerve, Ab...	ORPHA:252164
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Glycogen Storage Disease Due To Acid Maltase Deficiency	Gowers sign, Oligosacchariduria, Fatigable weakness of respiratory muscles, Lower limb muscle wea...	ORPHA:365
Spinocerebellar Ataxia 44	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls	OMIM:617691
Masa Syndrome	Lower limb spasticity, Short stature, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Sh...	OMIM:303350
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Nasal polyposis, Bile duct polyp, Rectal prolapse, Biliary tract abnorm...	OMIM:175200
Developmental And Epileptic Encephalopathy 47	Cerebellar atrophy, Optic disc pallor, Ataxia, Inability to walk, Limb ataxia, Gait disturbance	OMIM:617166
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Delayed CNS myelination, Ataxia, Prominent nasal bridge, Tremor, Inability to walk, Wide nasal br...	OMIM:619556
Pontocerebellar Hypoplasia, Type 7	Hypoplasia of the pons, Synophrys, Opisthotonus, Choreoathetosis, Hypertonia, High palate, Tongue...	OMIM:614969
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Ky...	OMIM:130060
Bothnia Retinal Dystrophy	Macular degeneration, Retinal dystrophy	OMIM:607475
Ataxia-Oculomotor Apraxia 3	Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, O...	OMIM:615217
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Shoulder dislocation, Dislocated radial head, Spatulate thumbs, Osteoporosis, Scolios...	OMIM:245600
X-Linked Charcot-Marie-Tooth Disease Type 4	Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scol...	ORPHA:101078
Shukla-Vernon Syndrome	Cerebellar atrophy, Broad-based gait, Attention deficit hyperactivity disorder, Wide nasal base, ...	OMIM:301029
Peroxisomal Acyl-Coa Oxidase Deficiency	Hepatomegaly, Depressed nasal bridge, Optic atrophy, Hypodontia, Abnormality of visual evoked pot...	ORPHA:2971
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ...	ORPHA:485
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg...	ORPHA:206484
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ja...	ORPHA:540
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis...	OMIM:112350
Spastic Paraplegia 51, Autosomal Recessive	Cerebellar atrophy, Short stature, Long nose, Inability to walk, Bulbous nose, Babinski sign, Spa...	OMIM:613744
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:79084
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Recurrent respiratory infections, Epicanthus, Cerebellar vermis hypoplasia, ...	OMIM:619383
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Orofacial cleft, Hepatic fibrosis, Retinal dege...	OMIM:615630
Slc35A2-Cdg	Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Spastic tetraparesis, Precociou...	ORPHA:356961
Brittle Cornea Syndrome	Hallux valgus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hyperfl...	ORPHA:90354
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Adrenal hyperplasia, High, narrow palate, Anteriorly placed anus, Abnormal ov...	ORPHA:95699
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration	OMIM:249270
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv...	ORPHA:88630
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg...	ORPHA:26790
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Hyperlordos...	OMIM:613327
Immunodeficiency 37	Colitis, Infectious encephalitis, Recurrent infections	OMIM:616098
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Osteomalacia, Recurrent fractures,...	ORPHA:1652
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Cerebellar atrophy, Epicanthus, Cerebellar vermis hypoplasia, Telecanthus, Delayed CNS myelinatio...	OMIM:618590
Mitochondrial Dna Depletion Syndrome 17	Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus, Hepatic failure	OMIM:618567
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)	Cerebellar atrophy, Neurogenic bladder, Intestinal pseudo-obstruction, Involuntary movements, Abn...	OMIM:619780
Retinitis Pigmentosa 27	Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch...	OMIM:613750
2P15P16.1 Microdeletion Syndrome	High palate, Multicystic kidney dysplasia, Facial palsy, Sparse eyebrow, Wide nasal bridge, Gait ...	ORPHA:261349
Short Stature-Micrognathia Syndrome	Cerebellar atrophy, Small scrotum, Ataxia, Short stature, Rhizomelia, Cryptorchidism, Cleft palat...	OMIM:617164
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp...	ORPHA:2658
Cog8-Cdg	Cerebellar atrophy, Chronic axonal neuropathy, Poor head control, Elevated hepatic transaminase, ...	ORPHA:95428
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Spinocerebellar Ataxia 26	Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia	OMIM:609306
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Cerebellar atrophy, Delayed CNS myelination, Short stature, Anteverted nares, Broad nasal tip, Br...	OMIM:617763
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Anteverted nares, Almond-shaped palpebral fissure, Partial agenesis of the co...	OMIM:616212
X-Linked Charcot-Marie-Tooth Disease Type 5	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, ...	ORPHA:99014
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Underdeveloped nasal alae, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental mal...	ORPHA:436245
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Dental crowding, Hyperautofluorescent macular lesion, Hi...	OMIM:209900
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Parkinsonism, Akinesia, Urinary incontinence, Rigidity, Babinski sign, Sp...	ORPHA:247234
Alpha-Mannosidosis, Adult Form	Cerebellar atrophy, Optic disc pallor, Ataxia, Pneumonia, Confusion, Recurrent infections, Hepato...	ORPHA:309288
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc...	OMIM:600175
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Metaphyseal sclerosis, Thrombocytopenia, Osteoporosis, Incr...	OMIM:612199
Werner Syndrome	Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density	OMIM:277700
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In...	OMIM:259770
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Neoplasm of the stomach	OMIM:114500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Jaundice, Tetraplegia, Hypertonia, Hemiplegia, Meningitis, In...	OMIM:267700
Meningococcal Meningitis	Papilledema, Renal insufficiency, Skin rash, Paresthesia, Infectious encephalitis	ORPHA:33475
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Cerebellar atrophy, Delayed CNS myelination, Broad-based gait, Short stature, Dystonia, Hypospadi...	OMIM:618891
Baralle-Macken Syndrome	Urinary incontinence, Kyphosis, Inability to walk, High, narrow palate, Upslanted palpebral fissu...	OMIM:619255
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Demen...	OMIM:137440
Spinocerebellar Ataxia 6	Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys...	OMIM:183086
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p...	ORPHA:79277
Seizures-Scoliosis-Macrocephaly Syndrome	Overlapping toe, Scoliosis, Reduced bone mineral density	ORPHA:466926
Abetalipoproteinemia	Abetalipoproteinemia, Fat malabsorption, Retinopathy, Retinal degeneration	OMIM:200100
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I...	ORPHA:424019
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11	Intrauterine growth retardation, Viral encephalitis	OMIM:619441
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Corpus callosum atrophy, Abnormal pons morphology, Lateral ventricle di...	ORPHA:77299
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Thrombocytopenia, Splenomegaly, Osteolysis, Increas...	ORPHA:77261
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Everted lower lip vermilion, Sho...	ORPHA:2429
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s...	OMIM:609128
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Episodic Ataxia Type 6	Cerebellar atrophy, Slurred speech, Ataxia, Hemiplegia	ORPHA:209967
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Obesity, Truncal obesity, Rod-cone dystrophy, Retinal de...	OMIM:615986
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Diabetes And Deafness, Maternally Inherited	Pigmentary retinopathy, Retinal degeneration	OMIM:520000
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars...	OMIM:190351
Late Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Ataxia, Corpus callosu...	ORPHA:168491
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormal metacarpophalangeal joint morphology, Joint stiffness, Splenomegaly, Increased circulati...	ORPHA:465508
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, Wide nose, Wide nasal bridge, Intrauterine growth retardation, Hypoplastic sp...	ORPHA:89844
Developmental And Epileptic Encephalopathy 48	Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Long eyelashes, Long palpebral fissure, ...	OMIM:617276
4Q21 Microdeletion Syndrome	Depressed nasal bridge, Short neck, Tremor, Kyphosis, Synophrys, Growth delay, Long eyelashes, Ce...	ORPHA:238750
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Long fingers, Osteo...	OMIM:309583
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Cerebellar atrophy, Ureteral stenosis, Ataxia, Anteverted nares, Depressed nasal bridge, Hydroure...	OMIM:615398
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Cerebellar vermis hypoplasia, Ataxia, Dystonia, Highly arched eyebrow, Anteverted nares, Tremor, ...	OMIM:220111
Glutaric Acidemia I	Hepatomegaly, Ketonuria, Rigidity, Glutaric aciduria, Delayed myelination, Spastic diplegia, Opis...	OMIM:231670
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine	Cerebellar atrophy, Progressive cerebellar ataxia	OMIM:618412
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Congenital Disorder Of Glycosylation, Type Iil	Cerebellar atrophy, Hepatomegaly, Epicanthus, Elevated hepatic transaminase, Unilateral renal age...	OMIM:614576
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Atrophy/Degenerat...	OMIM:613477
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Reduced bone mineral density, Scoliosis, Hypophosphatemia	ORPHA:2611
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Optic disc pallor, Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral a...	OMIM:213700
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Cataract, Long-chain di...	OMIM:608836
Ataxia With Vitamin E Deficiency	Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella...	OMIM:277460
Micro Syndrome	Hypoplasia of penis, Cerebellar vermis hypoplasia, Short stature, Anteverted nares, Abnormal cere...	ORPHA:2510
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Tetraparesis, Diffus...	ORPHA:477774
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Pyruvate Dehydrogenase E1-Alpha Deficiency	Anteverted nares, Tremor, Flared nostrils, Wide nasal bridge, Cerebral atrophy, Choreoathetosis, ...	OMIM:312170
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Combined Oxidative Phosphorylation Deficiency 27	Cerebellar atrophy, Dystonia, Microvesicular hepatic steatosis, Chorea, Cerebral atrophy, Opistho...	OMIM:616672
Sarcoidosis	Hepatomegaly, Abnormal nasal mucosa morphology, Hypercalcemia, Portal hypertension, Facial palsy,...	ORPHA:797
Short Stature, Microcephaly, And Endocrine Dysfunction	Ectopic kidney, Long nose, Dysmetria, Micropenis, Ataxia, Short stature, Cryptorchidism, Renal hy...	OMIM:616541
Fatty Acid Hydroxylase-Associated Neurodegeneration	Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar...	ORPHA:329308
Mitochondrial Complex I Deficiency, Nuclear Type 26	Cerebellar atrophy, Lacticaciduria, Cerebral atrophy, Choreoathetosis, Dystonia, Limb hypertonia	OMIM:618247
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Osteoporosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression fracture	OMIM:219090
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Amish Lethal Microcephaly	Decreased skull ossification, Osteoporosis, Limitation of joint mobility	ORPHA:99742
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Tremor, Inability to wal...	ORPHA:99956
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Epicanthus, Broad-based gait, Short stature, Anterior concavity of thoracic vertebrae, Anteverted...	OMIM:617101
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome	Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Axonal loss, Positive...	OMIM:614575
Congenital Myopathy 8	High palate, Cardiomegaly	OMIM:618654
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu...	OMIM:304020
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, High palate, Elevated gamma-glutamyltransferase level, Agenesis of corpus callosum, I...	OMIM:614866
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Mcdonough Syndrome	Short stature, Cachexia, Open bite, Cryptorchidism, Kyphosis, Dental malocclusion, Short philtrum...	ORPHA:2471
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Chorea, Axonal loss, Gliosis, Hepatomegaly, Lagophthalmos, Micr...	ORPHA:404454
Wieacker-Wolff Syndrome	Dystonia, Short stature, Facial palsy, Anteverted nares, Short neck, Hyperlordosis, Kyphosis, Del...	OMIM:314580
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ...	ORPHA:3474
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Congenital Disorder Of Glycosylation, Type Iie	Short neck, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentr...	OMIM:608779
Morning Glory Disc Anomaly	Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Congenital Disorder Of Glycosylation, Type Iii	Cerebellar atrophy, Neurogenic bladder, Short stature, Atrophy/Degeneration affecting the brainst...	OMIM:613612
Spinocerebellar Ataxia, Autosomal Recessive 11	Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy	OMIM:614229
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Osteoporosis, 2-3 toe syndactyly, Upper limb underg...	ORPHA:96201
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Long philtrum, Abnormality of visual evoked potentials, Short nose, Abnormal palate mor...	ORPHA:1389
Leber Congenital Amaurosis 1	Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria	OMIM:204000
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Osteoporosis, Recurrent fractures, Reduced bone mineral density	ORPHA:2235
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Familial Or Sporadic Hemiplegic Migraine	Cerebellar atrophy, Confusion, Involuntary movements, Impaired temperature sensation, Dissociated...	ORPHA:569
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Spastic tetraparesis, Inability to walk, Optic atrophy, Cerebral atrophy, CNS...	OMIM:618012
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Micropenis, Cataract	OMIM:610156
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Epicanthus, Babinski sign, Narrow palate, CNS hypomyelination, Facial diplegi...	OMIM:618186
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Pustule, My...	ORPHA:139402
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen...	ORPHA:536467
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele...	ORPHA:355
3-Methylglutaconic Aciduria, Type Viib	Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Bulbous nose, Recurrent pneumonia, Cerebral atrop...	OMIM:616271
Scheie Syndrome	Wide nose, Depressed nasal bridge, Retinal degeneration	OMIM:607016
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Abnormality of the pa...	ORPHA:2552
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Cerebral atrophy, Hypodontia, Brain atrophy, Failure to thrive, Retinal degeneration	ORPHA:442835
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Reynolds Syndrome	Hepatomegaly, Skin rash, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Arthritis, Ker...	ORPHA:779
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Ena...	OMIM:270200
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Anteverted nares, Depressed nasal bridge, Hypospadias, Hyperlordosis, Kyphosis, Sy...	OMIM:615761
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Cerebellar atrophy, Anteverted nares, Short neck, Wide nasal bridge, Cerebral atrophy, Prominent ...	OMIM:616266
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Dietary Iron Overload Disease	Increased circulating ferritin concentration, Elevated transferrin saturation, Osteoporosis, Elev...	ORPHA:139507
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
X-Linked Charcot-Marie-Tooth Disease Type 1	Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis	ORPHA:101075
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 7	Herpes simplex encephalitis	OMIM:616532
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Hepatosplenomegaly	OMIM:273680
Acth-Independent Macronodular Adrenal Hyperplasia 2	Osteoporosis	OMIM:615954
Developmental And Epileptic Encephalopathy 99	Cerebellar atrophy, Delayed CNS myelination, Eyelid myoclonus, Frontotemporal cerebral atrophy, A...	OMIM:619606
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Autosomal Dominant Progressive External Ophthalmoplegia	Tremor, Quadriceps muscle weakness, Gait ataxia, Abnormality of the liver, Hypertonia, Ataxia, Fa...	ORPHA:254892
Spastic Paraplegia 39, Autosomal Recessive	Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Distal l...	OMIM:612020
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine...	OMIM:620366
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Babinski sign, Optic atrophy, Gait atax...	OMIM:620089
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Truncus arteriosus, Intestinal malrotation, Hiatus he...	ORPHA:2538
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Cerebellar atrophy, Ataxia, Urinary incontinence, Long nose, Ophthalmoplegia, Loss of ability to ...	OMIM:300243
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Epicanthus, Depressed nasal bridge, Wide nasal bridge, Cerebral atrophy, CNS hypomyelination, Hig...	OMIM:615760
Distal Deletion 10Q	Clonus, Prominent nose, Functional abnormality of the bladder, High palate, Vesicoureteral reflux...	ORPHA:96148
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys...	ORPHA:2357
Spinocerebellar Ataxia 15	Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor	OMIM:606658
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Elevated hepatic transaminase, Renal insufficiency, Abnormal pyramidal sign, ...	ORPHA:445038
Senior-Loken Syndrome 9	Retinal dystrophy, Obesity, Cholestasis, Macular degeneration, Hepatic fibrosis, Hypogonadism, Ro...	OMIM:616629
Bethlem Myopathy 2	Kyphosis, Distal joint laxity, Flexion contracture, Scoliosis	OMIM:616471
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Splenomegaly, Abnormal circulating porphyrin concentration, Osteopo...	ORPHA:95159
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral a...	ORPHA:500180
Fetal Akinesia Deformation Sequence 4	Short neck, Cryptorchidism, Kyphosis, High palate, Camptodactyly, Arthrogryposis multiplex congenita	OMIM:618393
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy,...	OMIM:610217
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t...	ORPHA:2710
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Short stature, Abnormality of the dentition, Limitation of joint mobility, Growth del...	ORPHA:177
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Eyelid coloboma, Agenesis of corpus callosum, ...	ORPHA:2308
Dystonia-Aphonia Syndrome	Cerebellar atrophy, Generalized dystonia, Unsteady gait, Cerebral atrophy, Macroglossia, Abnormal...	ORPHA:412217
Rift Valley Fever	Back pain, Elevated hepatic transaminase, Skin rash, Paralysis, Paraparesis, Jaundice, Severe vir...	ORPHA:319251
Marden-Walker Syndrome	Short neck, High, narrow palate, High palate, Micropenis, Agenesis of corpus callosum, Dandy-Walk...	OMIM:248700
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Ly...	ORPHA:381
Wieacker-Wolff Syndrome, Female-Restricted	Delayed CNS myelination, Distal muscle weakness, Short stature, Facial palsy, Anteverted nares, S...	OMIM:301041
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Mitochondrial Complex I Deficiency, Nuclear Type 37	Cerebellar atrophy, Poor head control, Hypospadias, Corpus callosum atrophy, Cerebral atrophy, Op...	OMIM:619272
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Calcinosis, Down-sloping shoulders, Joint stiffness, Coxa valga, Hyperlipidemia, Flex...	OMIM:248370
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Osteoporosis,...	OMIM:613990
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Cockayne Syndrome B	Abnormal peripheral myelination, Tremor, Micropenis, Hepatomegaly, Ataxia, Cerebellar calcificati...	OMIM:133540
Atypical Rett Syndrome	Total ophthalmoplegia, Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis...	ORPHA:3095
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Kyphosis, Head titubation, Optic atrophy, Bro...	OMIM:619708
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Familial Melanoma	Neoplasm of the pancreas, Abnormality of the lymphatic system, Neoplasm of the stomach	ORPHA:618
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Distal Deletion 10P	Hypoplasia of penis, Cryptorchidism, Cleft palate, Polycystic ovaries, Ectopic anus, Anal atresia	ORPHA:1580
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocellularity, Neutropenia...	OMIM:613989
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Ataxia-Oculomotor Apraxia 4	Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr...	OMIM:616267
Acquired Hypertrichosis Lanuginosa	Macroglossia, Ovarian neoplasm, Glossitis, Lymphadenopathy	ORPHA:2221
X-Linked Intellectual Disability Due To Gria3 Mutations	Pain insensitivity, Cerebellar vermis hypoplasia, Distal muscle weakness, Short stature, Kyphosis...	ORPHA:364028
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hepatomegaly, Depressed nasal bridge, Cerebral atrophy, Gliosis, High palate,...	OMIM:604377
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Cerebellar atrophy, Narrow nasal bridge, Delayed myelination, Hypertonia, Scoliosis, Spasticity, ...	ORPHA:544503
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome...	OMIM:617303
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis	ORPHA:75234
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Cataract, Hypospadias	ORPHA:1381
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the...	ORPHA:314473
Congenital Disorder Of Glycosylation, Type Ix	Cerebellar atrophy, Small scrotum, Cryptorchidism, Optic atrophy, Intrauterine growth retardation...	OMIM:615597
Stt3B-Cdg	Cerebellar atrophy, Small scrotum, Cryptorchidism, Optic atrophy, Intrauterine growth retardation...	ORPHA:370924
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc...	OMIM:618060
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Epicanthus, Short stature, Depressed nasal bridge, Kyphosis, Scoliosis	OMIM:300434
Cockayne Syndrome	Urinary incontinence, Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Hepatomegal...	ORPHA:191
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Poor head control, Kyphoscoliosis, Hyperlordosis, Respiratory i...	ORPHA:2020
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Kyphoscoliosis, Dentinogenesis impe...	OMIM:610968
Spastic Tetraplegia And Axial Hypotonia, Progressive	Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetrapar...	OMIM:618598
Attrv30M Amyloidosis	Nephropathy, Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Retinitis Pigmentosa 51	Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten...	OMIM:613464
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Cone-Rod Dystrophy 15	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels	OMIM:613660
Complement Component 8 Deficiency, Type I	Meningitis	OMIM:613790
15Q24 Microdeletion Syndrome	Joint laxity, Short stature, Decreased response to growth hormone stimulation test, Small for ges...	ORPHA:94065
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypoplastic iliac...	ORPHA:93315
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Achromatopsia 7	Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy	OMIM:616517
Hypotonia, Ataxia, And Delayed Development Syndrome	Cerebellar vermis hypoplasia, Synophrys, Dysmetria, Gait ataxia, Vesicoureteral reflux, Micropeni...	OMIM:617330
Perrault Syndrome 4	Osteoporosis	OMIM:615300
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Distal muscle weakness, Ataxia, Pancreatic fibrosis, Short stat...	OMIM:616263
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Distal muscle weakness, Ataxia, Facial palsy, Mild postnatal growth retardation, Dy...	ORPHA:456312
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Jaun...	ORPHA:1333
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium, Supernumer...	ORPHA:1433
Craniosynostosis 6	Cerebellar atrophy, Lateral ventricle dilatation, Scoliosis, Spina bifida occulta, Agenesis of co...	OMIM:616602
Autosomal Recessive Spastic Paraplegia Type 39	Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins...	ORPHA:139480
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Inflammation of the large i...	OMIM:300635
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Enlarged polycystic ovaries, Furrowed tongue, H...	ORPHA:201
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Cryptorchidism, Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy	ORPHA:404451
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy, ...	ORPHA:3386
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Depressed nasal bridge, Tremor, Splenomegaly...	OMIM:608799
Spinocerebellar Ataxia 4	Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb...	OMIM:600223
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Flexion contracture, Osteoporosis, Elbow flexion contracture, Hip dislocation	OMIM:614438
Congenital Enterovirus Infection	Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Meningitis, Infectious encephalitis	ORPHA:292
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus	Cerebellar atrophy, Short stature, Babinski sign, Cerebral atrophy, Gait ataxia, Sensory ataxia, ...	OMIM:616192
Cole-Carpenter Syndrome 2	Osteopenia, Short stature, Recurrent fractures, Postnatal growth retardation, Kyphosis, Dentinoge...	OMIM:616294
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Prominent nasal bridge, Short neck, Kyphosis, Cryptorchidism, Abnormality of the palpebral fissur...	ORPHA:178148
3C Syndrome	Hypoplasia of penis, Short neck, High, narrow palate, Hemivertebrae, Aplasia/Hypoplasia of the ce...	ORPHA:7
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Tapered finger, 2-3 toe cuta...	OMIM:300998
Meacham Syndrome	Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Abno...	ORPHA:3097
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Underdeveloped nasal alae, Cryptorchidism, Abnormality of pattern visual evoked potentials, Broad...	ORPHA:166035
Bohring-Opitz Syndrome	Bilateral cleft palate, Epicanthus, Sacral dimple, Short stature, Anteverted nares, Delayed perip...	OMIM:605039
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Distal muscle weakness, Impaired distal proprioception, Decrea...	OMIM:162400
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Lymphadenopathy	OMIM:605258
Myopathic Ehlers-Danlos Syndrome	Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract...	ORPHA:536516
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Generalized lymphadenopathy, Abdo...	ORPHA:160
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Dominant Beta-Thalassemia	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231226
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Telecanthus, Broad-based gait, Ataxia, Palpebral edema, Kyphoscol...	ORPHA:397709
Cone Dystrophy 3	Cone/cone-rod dystrophy, Macular atrophy	OMIM:602093
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Genu valgum, Reduced bone mineral density	ORPHA:2983
Zimmermann-Laband Syndrome 3	Broad nasal tip, Kyphosis, Synophrys, Wide nasal bridge, Long eyelashes, High palate, Bifid uvula...	OMIM:618658
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Increased susceptibility to fractures...	OMIM:609220
Radio-Tartaglia Syndrome	Tremor, High, narrow palate, Synophrys, High palate, Agenesis of corpus callosum, Ataxia, Antever...	OMIM:619312
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Ataxia, Short stature, Tremor, Splenomegaly, Ky...	ORPHA:812
Coenzyme Q10 Deficiency, Primary, 5	Cerebellar atrophy, Cerebral atrophy, Hypertonia, Dystonia, Intrauterine growth retardation	OMIM:614654
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 5	Herpes simplex encephalitis	OMIM:614849
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Enteroviral hepatitis, ...	OMIM:300755
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Delayed myelination, Cryptorchidism, Prolonged neonatal jaundice, Downslanted palpebral...	OMIM:618512
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Arthrogryposis multiplex conge...	ORPHA:86822
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Kyphosis, Thick lower lip vermilion, Obesity, Pro...	OMIM:300602
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ata...	OMIM:602481
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi...	ORPHA:663
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Kyphosis, Cryptorchidism, Agenesis of corpus callosum, High palate, Attention deficit...	OMIM:615433
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormality of the dentition, Kyphosis, Scoliosis, Abnormal testis morphology	ORPHA:1548
Van Esch-O'Driscoll Syndrome	Shallow orbits, Spina bifida occulta, Bifid uvula, Short stature, Depressed nasal bridge, Hypogon...	OMIM:301030
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Epicanthus, Exaggerated startle response, Tremor, Abnormal cerebellum morphol...	OMIM:618056
Subacute Sclerosing Panencephalitis	Infectious encephalitis	OMIM:260470
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 10	Herpes simplex encephalitis	OMIM:619396
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Cryptorchidism, Hydronephrosis, Cerebel...	OMIM:620327
Hypophosphatemic Bone Disease	Hypophosphatemia, Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Developmental And Epileptic Encephalopathy 65	Cerebellar atrophy, Spasticity, Highly arched eyebrow, Cerebral atrophy	OMIM:618008
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia	ORPHA:171844
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Macs Syndrome	Joint laxity, Osteoporosis, Scoliosis, Joint hypermobility, Brachydactyly	OMIM:613075
Gaucher Disease Type 2	Splenomegaly, Dysphagia, Hepatomegaly	ORPHA:77260
X-Linked Intellectual Disability, Najm Type	Optic nerve hypoplasia, Rigidity, Optic atrophy, Wide nasal bridge, Gait disturbance, Cerebellar ...	ORPHA:163937
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Abnormal enchondral ossification, H...	OMIM:156530
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypoplasia of the pons, Abnormal pyramidal sign, Hypertonia, Microphallus, Pelvic kidney, Agenesi...	ORPHA:468631
Xq12-Q13.3 Duplication Syndrome	Optic disc pallor, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Cr...	ORPHA:314389
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Recurrent fractures, Osteoporosis, Tibial bowing, Short foot, Slender long bone, O...	OMIM:601812
Joubert Syndrome 37	Hepatomegaly, Wide nose, Lumbar hyperlordosis, Cerebellar vermis hypoplasia, Short stature, Antev...	OMIM:619185
Aromatase Deficiency	Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto...	ORPHA:91
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Pollakisuria, ...	ORPHA:93256
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb...	OMIM:608184
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation	Cerebellar atrophy, Dystonia, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atr...	OMIM:616875
Spastic Paraplegia 53, Autosomal Recessive	Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d...	OMIM:614898
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Joint laxity, Short stature, Small for gestational age, Kyphoscoliosis, Kyphosis, Delayed epiphys...	ORPHA:93360
Spinocerebellar Ataxia Type 21	Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram...	ORPHA:98773
Pontocerebellar Hypoplasia, Type 2B	Cerebellar atrophy, Cerebellar vermis hypoplasia, Clonus, Chorea, Babinski sign, Cerebral atrophy...	OMIM:612389
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Abnormality of Krebs cycl...	ORPHA:255210
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti...	OMIM:618195
Primary Ciliary Dyskinesia	Nasal polyposis, Intestinal malrotation, Asplenia, Nasal congestion, Polysplenia, Chronic rhiniti...	ORPHA:244
Muir-Torre Syndrome	Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A...	ORPHA:587
Occipital Horn Syndrome	Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula...	OMIM:304150
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Renal cyst, High palate, Vesicoureteral ref...	OMIM:616975
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Narrow nasal bridge, Telecanthus, Cerebellar vermis hypoplasia, Depressed nasal bridge, Short nec...	OMIM:620073
Sjögren-Larsson Syndrome	Retinopathy, Macular degeneration, Abnormality of retinal pigmentation, Abnormal dental enamel mo...	ORPHA:816
Cysticercosis	Somatic sensory dysfunction, Ataxia, Confusion, Iridocyclitis, Abnormality of the vertebral colum...	ORPHA:1560
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Ataxia, Short stature, Postural tremor, Seborrheic dermatitis, ...	OMIM:301072
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Copper accumulation in liver, Cerebral atrophy, Gro...	OMIM:614946
Wiedemann-Steiner Syndrome	Synophrys, High palate, Brow ptosis, Short stature, Highly arched eyebrow, Cryptorchidism, Wide n...	OMIM:605130
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Increased circulating IgE level, Dental ma...	ORPHA:1858
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse...	ORPHA:536471
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph...	OMIM:221900
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Increased circulating beta-C-terminal telopeptide concentration...	ORPHA:157215
Choreoacanthocytosis	Caudate atrophy, Chorea, Oromandibular dystonia, Hypertonia, Limb dystonia, Loss of ambulation, L...	ORPHA:2388
Leber Congenital Amaurosis 8	Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy	OMIM:613835
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Hepatomegaly, Epicanthus, Delayed CNS myelination, Short stature, Splenomegal...	OMIM:618541
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Short attention span, Delayed CNS myelination, Ataxia, Protruding tongue, Ina...	OMIM:619580
Ritscher-Schinzel Syndrome 4	Ataxia, Short stature, Cryptorchidism, Chorea, Wide nasal bridge, Narrow palate, Athetosis, Downs...	OMIM:619435
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Kyphoscoliosis, Tall lumbar vertebral bodies, Osteoporosis, Osteolytic ...	OMIM:102500
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Faciocardiomelic Syndrome	Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T...	OMIM:612731
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Cerebellar atrophy, Elevated hepatic transaminase, Short stature, Hypergonadotropic hypogonadism,...	OMIM:268020
Osteogenesis Imperfecta	Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Ab...	ORPHA:666
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Short palm, Clin...	ORPHA:457395
Coccidioidomycosis	Osteomyelitis, Eosinophilia, Abscess, Abnormality of the spleen, Osteolysis, Abnormal long bone m...	ORPHA:228123
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Thoracic kyphoscoliosis, Thoracic scoliosis, Distal joint laxity, Generalized joint l...	ORPHA:1900
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, D...	OMIM:212750
Alpha-Mannosidosis	Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Dental malocclusion, Gingival overgro...	ORPHA:61
Progressive Bifocal Chorioretinal Atrophy	Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy	ORPHA:75373
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
X-Linked Hypophosphatemia	Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone...	ORPHA:89936
Fibrosis Of Extraocular Muscles, Congenital, 3C	Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenital fibrosis of extraocular ...	OMIM:609384
Adult-Onset Cervical Dystonia, Dyt23 Type	Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca...	ORPHA:420492
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Flexion contracture, Progressive clavicular acroosteolysis, Osteolytic defects of...	OMIM:608612
Retinitis Pigmentosa 80	Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels	OMIM:617781
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Reduced bone mineral densit...	OMIM:620232
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Cleidocranial Dysplasia 2	Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph...	OMIM:619463
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Brachydactyly, Microcytic anemia, T ...	ORPHA:2959
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Synophrys, Dandy-Walker malformation, Cerebellar dysplasia, Hypospadias, Highly arched eyebrow, S...	ORPHA:487796
Diastrophic Dysplasia	Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Kyphosi...	ORPHA:628
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Tremor, Periodontitis, Ataxia, Parkinsonism, Recurrent strep...	ORPHA:167
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries	ORPHA:100
Joubert Syndrome 3	Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Anteverted nares, Highly arched eyebrow, Wide n...	OMIM:608629
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Scoliosis, Broad phalanges of the hand, ...	OMIM:277600
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Dysostosis, Stanescu Type	Increased bone mineral density, Short stature, Abnormal dental enamel morphology, Hyperlordosis, ...	ORPHA:1798
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Hyperparathyroidism 4	Osteopenia, Hypercalcemia	OMIM:617343
Spinocerebellar Ataxia 7	Macular degeneration, Optic atrophy, Pigmentary retinopathy	OMIM:164500
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Lowry-Maclean Syndrome	Osteopenia, Osteoporosis, Craniosynostosis	ORPHA:2409
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p...	ORPHA:2930
Melioidosis	Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a...	ORPHA:31202
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Anteverted nares, Babinski sign, Optic atrophy, Wide nasal bridge, Spasticity,...	OMIM:618437
Cadds	Cerebellar atrophy, Elevated hepatic transaminase, Cholangitis, Cholestasis, Dystonia, Intrauteri...	ORPHA:369942
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Short stature, Optic nerve hypoplasia, Dysplastic corpus callosum, Abnormal p...	OMIM:614833
Aceruloplasminemia	Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Retinal d...	OMIM:604290
Ciliary Dyskinesia, Primary, 35	Nasal polyposis, Abdominal situs ambiguus, Chronic rhinitis	OMIM:617092
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, High palate, Scoliosis, Long philtrum, Delayed puberty	ORPHA:2598
Leber Congenital Amaurosis 9	Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul...	OMIM:608553
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Beta-Thalassemia Major	Bowing of the long bones, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin con...	ORPHA:231214
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P...	ORPHA:2348
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal pyramidal sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Tru...	ORPHA:247815
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Optic atrophy, Hyperammonemia, Cerebral atrophy, Frontotemporal cerebra...	ORPHA:391428
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Hypotaurinemia, Retinal pigment ep...	OMIM:145350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, Villous atrophy, Functional abnormality of the bladder, Infectious encephalitis...	ORPHA:391487
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Epicanthus, Small scrotum, Cryptorchidism, Synophrys, Hemiplegia/hemiparesis, Optic atrophy, Wide...	ORPHA:1970
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Spinocerebellar Ataxia-Dysmorphism Syndrome	Joint hyperflexibility, Spina bifida occulta, Slender long bone, Reduced bone mineral density	ORPHA:1185
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Short stature, Decreased response to growth hormone stimulation te...	ORPHA:293987
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Schwartz-Jampel Syndrome	Elevated circulating creatine kinase concentration, Coxa vara, Wrist flexion contracture, Abnorma...	ORPHA:800
Emanuel Syndrome	High palate, Micropenis, Dandy-Walker malformation, Cryptorchidism, Renal hypoplasia, Scoliosis, ...	OMIM:609029
Trigeminal Neuralgia	Somatic sensory dysfunction, Cranial nerve compression, Paresthesia, Allodynia, CNS demyelination...	ORPHA:221091
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Cryptorchidism, Kyphosis, Flexion contracture, Scolios...	OMIM:618484
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Spondyloocular Syndrome	Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl...	OMIM:605822
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Coiled sperm flagella, Short sperm flagella, Nasal polyposis, Recurrent sinusitis	OMIM:620197
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Gastroesophageal reflux, Pulmonic stenosis, Ascites	ORPHA:2414
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Reduced bone mineral density, Joint hyperfl...	ORPHA:1488
Combined Oxidative Phosphorylation Deficiency 39	Cerebellar atrophy, Recurrent respiratory infections, Involuntary movements, Babinski sign, Cereb...	OMIM:618397
Bainbridge-Ropers Syndrome	Synophrys, Hypertonia, Choanal stenosis, High palate, Anteverted nares, Depressed nasal bridge, H...	OMIM:615485
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy...	ORPHA:217260
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab...	ORPHA:54251
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:398079
Kleefstra Syndrome 2	Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula	OMIM:617768
Igg4-Related Ophthalmic Disease	Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of infra-orbital ...	ORPHA:449563
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced my...	OMIM:201475
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Anteverted nares, Depressed nasal bridge, High...	OMIM:618316
Lysinuric Protein Intolerance	Hypolysinemia, Recurrent fractures, Splenomegaly, Increased circulating ferritin concentration, O...	OMIM:222700
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Cerebellar atrophy, Poor head control, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619685
Lysinuric Protein Intolerance	Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine conc...	ORPHA:470
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebellar vermis hypoplasia, Ataxia, Delayed myeli...	ORPHA:543470
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal atrophy, Retinal dystrophy, Elevated circulating creatine kinase concentration	ORPHA:370022
Intellectual Developmental Disorder, Autosomal Dominant 62	Scoliosis, Cerebellar vermis atrophy	OMIM:618793
Mitochondrial Complex I Deficiency, Nuclear Type 28	Cerebellar atrophy, Optic disc pallor, Poor head control, Lower limb spasticity, Optic neuropathy...	OMIM:618249
Prader-Willi Syndrome	Osteopenia, Syndactyly, Kyphosis, Acromicria, Osteoporosis, Small hand, Genu valgum, Short foot, ...	OMIM:176270
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Peripheral axonal neuropathy, Anteverted nares, Sparse eyebrow, Dysplastic corpus c...	OMIM:618810
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Osteoporosis, Finger joint hypermobility, Scoliosis	ORPHA:363705
Episodic Ataxia, Type 2	Cerebellar vermis atrophy, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia,...	OMIM:108500
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebellar atrophy, Ureteral duplication, Epicanthus, Anal stenosis, Anteverted nares, Depressed ...	OMIM:614080
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Decreased circulatin...	OMIM:271510
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertro...	OMIM:616028
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Huppke-Brendel Syndrome	Cerebellar atrophy, Inability to walk, Cerebral atrophy, CNS hypomyelination	OMIM:614482
Multiple Osteochondromas	Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn...	ORPHA:321
Lathosterolosis	Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Postaxial hand polydactyly, Schis...	OMIM:607330
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria	ORPHA:251004
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Acu...	ORPHA:99812
Mucopolysaccharidosis, Type Iiid	Cerebellar atrophy, Hepatomegaly, Thoracic scoliosis, Pilonidal sinus, Short stature, Anteverted ...	OMIM:252940
Oguchi Disease	Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon	ORPHA:75382
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a...	ORPHA:646
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract...	ORPHA:234
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat...	ORPHA:353298
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ...	ORPHA:2470
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Short stature, Polyuria, Renal salt wasting, Enuresis, Dysdiadochokin...	OMIM:612780
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre...	OMIM:166220
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Short stature, Anteverted nares, Abnormal eyelash morphology, Optic atrophy, Wide nasal bridge, H...	ORPHA:2518
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Mucopolysaccharidosis Type 4	Bowing of the long bones, Hyperlordosis, Coxa valga, Kyphosis, Reduced bone mineral density, Genu...	ORPHA:582
Congenital Muscular Dystrophy, Ullrich Type	Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Elbow flexion contracture, Hyperexten...	ORPHA:75840
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Joint hypermobility, Recurrent fractures, Scoliosis, Reduced bone mineral density	OMIM:619115
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Osteoporosis, Camptodactyly	ORPHA:432
Asthma, Nasal Polyps, And Aspirin Intolerance	Nasal polyposis	OMIM:208550
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Ascites, Anemia	ORPHA:75233
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Prominent nose, High palate, Dandy-Walker malformation, Ataxia, Shor...	OMIM:251300
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Ataxia, Short stature, Kyphosis, Optic atrophy, Choreoathetosis...	ORPHA:702
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Thin upper lip vermilion, Optic disc pallor, Abnormal auditory evoked potentials, High palate, Lo...	OMIM:617523
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Retinal detachment, Absen...	OMIM:120330
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Short stature, Aganglionic megacolon, Broad nasal tip, Inability to walk, Wide nas...	OMIM:614207
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Poor head control, Broad-based gait, Short stature, Lower limb muscle weakness, Long nose, Inabil...	OMIM:617146
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Osteoporosis, Hepatosplenomegaly, Hypoalbuminemia, Scoliosis, Anemia	OMIM:619487
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels	OMIM:604393
Kanzaki Disease	Peripheral axonal neuropathy, Distal muscle weakness, Depressed nasal bridge, Increased urinary O...	OMIM:609242
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Cerebellar atrophy, Resting tremor, Ataxia, Urinary incontinence, Babinski sign, Optic atrophy, C...	ORPHA:314404
Lathosterolosis	Abnormal thoracic spine morphology, Epicanthus, Hepatomegaly, Anteverted nares, Hypoplasia of pen...	ORPHA:46059
Craniometadiaphyseal Dysplasia	Osteopenia, Broad long bones, Coxa valga, Wide anterior fontanel, Flared metaphysis, Genu valgum,...	OMIM:269300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Typical Nemaline Myopathy	Waddling gait, Neck flexor weakness, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal ri...	ORPHA:171436
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Elevated hepatic transaminase, Poor head control, Progressive neurologic dete...	OMIM:618329
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El...	OMIM:273250
Retinitis Pigmentosa 77	Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede...	OMIM:617304
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Short stature, Narrow nose, Malabsorption, Herpes simple...	OMIM:233600
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal d...	ORPHA:1770
Flynn-Aird Syndrome	Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Plin1-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hepatic fibrosis, Polycystic ovaries	ORPHA:280356
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic s...	ORPHA:79083
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Microglossia, Ascites	OMIM:253250
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular volume, B...	OMIM:127550
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Cardiomegaly, Oligosacchariduria	ORPHA:3137
Cryptococcosis	Lymphoid leukemia, Osteomyelitis, Osteolysis	ORPHA:1546
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardi...	ORPHA:85451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Cardiomyopathy, Neutropenia, P...	ORPHA:79312
Werner Syndrome	Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis	ORPHA:902
Peroxisome Biogenesis Disorder 10B	Nephrocalcinosis, Neurogenic bladder, Cataract	OMIM:617370
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H...	OMIM:602782
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Primary Biliary Cholangitis	Increased circulating IgA level, Conjugated hyperbilirubinemia, Osteoporosis, Increased circulati...	ORPHA:186
9Q33.3Q34.11 Microdeletion Syndrome	Telecanthus, Delayed CNS myelination, Wide nose, Epistaxis, Highly arched eyebrow, Short neck, Sp...	ORPHA:495818
Joubert Syndrome 30	Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malformation, Ptosis	OMIM:617622
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Immunoglobulin A Vasculitis	Episcleritis, Renal insufficiency, Skin rash, Proteinuria, Pustule, Orchitis, Hemiplegia/hemipare...	ORPHA:761
Uruguay Faciocardiomusculoskeletal Syndrome	Waddling gait, Elevated hepatic transaminase, Wide nose, Elevated circulating aspartate aminotran...	OMIM:300280
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Trisomy 13	Displacement of the urethral meatus, Abnormal eyelash morphology, Kyphosis, Cryptorchidism, High,...	ORPHA:3378
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Kyphoscoliosis, Severe generalized osteoporosis, Hypoplastic pubic bone, Cone-sh...	OMIM:210730
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Chikungunya	Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff interphalangeal...	ORPHA:324625
Granulomatosis With Polyangiitis	Retinal hemorrhage, Oral ulcer, Weight loss, Concave nasal ridge, Nasal mucosa vasculitis	OMIM:608710
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Microphthalmia, Syndromic 9	Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Multilobu...	OMIM:601186
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Joint hyperflexibility	ORPHA:319199
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Appendicular spasticity, Epicanthus, Cerebellar vermis hypoplasia, Sparse eyelashes, Short statur...	OMIM:620070
Stickler Syndrome, Type V	Retinal detachment, Cataract	OMIM:614284
Ciliary Dyskinesia, Primary, 42	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:618695
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Intestinal edema, Hypoesthesia, Axonal degeneration, Muscle weakness	OMIM:106100
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Richards-Rundle Syndrome	Joint stiffness, Reduced bone mineral density	ORPHA:1399
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Poretti-Boltshauser Syndrome	Retinal thinning, Retinal atrophy, Retinal dystrophy	OMIM:615960
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Pycnodysostosis	Decreased response to growth hormone stimulation test, Generalized osteosclerosis, High palate, J...	ORPHA:763
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Cholestasis, Lym...	OMIM:615895
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Aminoaciduria, Glios...	OMIM:124000
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat...	OMIM:212140
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Joubert Syndrome 6	Retinal degeneration, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma	OMIM:610688
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Lethal Kniest-Like Dysplasia	Short neck, Mesomelic/rhizomelic limb shortening, Abnormal cartilage morphology, Abnormal cartila...	ORPHA:2347
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Ciliary Dyskinesia With Defective Radial Spokes	Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis	OMIM:242670
Marshall-Smith Syndrome	Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m...	ORPHA:561
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Familial Paroxysmal Ataxia	Torticollis, Ataxia, Dystonia, Hemiplegia, Cerebellar vermis atrophy	ORPHA:97
Trichothiodystrophy	Congenital exfoliative erythroderma, High, narrow palate, Partial agenesis of the corpus callosum...	ORPHA:33364
Cimdag Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Ataxia, Microvesicular hepatic steatosis, Chorea, Cer...	OMIM:619273
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Small hand, Short foot, Hip dysplasia, S...	ORPHA:398069
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Osteoporosis	ORPHA:2326
Farber Disease	Thrombocytopenia, Short toe, Flexion contracture, Osteoporosis, Hepatosplenomegaly, Arthritis, Sh...	ORPHA:333
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Ciliary Dyskinesia, Primary, 19	Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:614935
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Optic neuropathy, Splenomegaly, Enlarged lacrimal glands, Weight loss, Chorioretini...	OMIM:181000
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Vertebral compression fracture, Reduced bone mineral density, Sc...	OMIM:112240
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Zaki Syndrome	Dilated fourth ventricle, Sacral dimple, Cerebellar vermis hypoplasia, Short stature, Anteverted ...	OMIM:619648
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Pain insensitivity, Epicanthus, Depressed nasal bridge, Tremor, Kyphosis, Synophrys, Bulbous nose...	OMIM:617061
Spinocerebellar Ataxia 27A	Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno...	OMIM:193003
Coffin-Lowry Syndrome	Epicanthus, Wide nose, Short stature, Anteverted nares, Depressed nasal bridge, Kyphosis, Optic a...	ORPHA:192
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Angulated humerus, Bowing of the long bones, Recurrent fractures, Decreased calvarial...	OMIM:616229
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Polycystic ovaries...	ORPHA:528
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Scoliosis, Arthrogryposis m...	ORPHA:2671
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Short neck, Tremor, Synophrys, High palate, Recurrent aspiration pneumonia, Anteverted nares, Ath...	ORPHA:280633
Baraitser-Winter Cerebrofrontofacial Syndrome	Short neck, Long nose, Prominent nose, Subcortical cerebral atrophy, Highly arched eyebrow, Optic...	ORPHA:2995
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti...	OMIM:604278
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare...	OMIM:224300
Cardiofaciocutaneous Syndrome 3	Scoliosis, Reduced bone mineral density	OMIM:615279
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Ankle clonus, Recurrent bacterial infec...	OMIM:308230
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Maternal Uniparental Disomy Of Chromosome 2	Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Ele...	ORPHA:96179
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Delayed CNS myelination, Neurogenic bladder, Oromotor apraxia, Optic atrophy,...	ORPHA:466934
Refsum Disease, Classic	Anosmia, Rod-cone dystrophy, Elevated circulating phytanic acid concentration, Retinal degeneration	OMIM:266500
Chromosome 10Q26 Deletion Syndrome	Short attention span, Epicanthus, Lumbar hyperlordosis, Short stature, Broad-based gait, Small sc...	OMIM:609625
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Hemoly...	OMIM:619644
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Brucellosis	Liver abscess, Chorea, Knee osteoarthritis, Abnormality of the liver, Infectious encephalitis, He...	ORPHA:1304
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick verm...	OMIM:616455
Plaa-Associated Neurodevelopmental Disorder	Bulbar palsy, Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Optic atroph...	ORPHA:521426
Hurler Syndrome	Progressive neurologic deterioration, Short neck, Hepatomegaly, Short stature, Anteverted nares, ...	OMIM:607014
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Nasal polyposis, Malabsorption, Weight loss, Central nervous system degen...	ORPHA:183
Glycogen Storage Disease Ib	Splenomegaly, Hyperlipidemia, Osteoporosis, Gout, Hyperuricemia, Neutropenia	OMIM:232220
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Severe short stature, Limb joint contracture, Abnor...	ORPHA:93314
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron...	OMIM:606003
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Tick-Borne Encephalitis	Back pain, Tremor, Tongue fasciculations, Fatigable weakness of respiratory muscles, Meningitis, ...	ORPHA:297
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Rhabdoid Tumor	Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia	ORPHA:69077
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Galloway-Mowat Syndrome 10	Cerebellar atrophy, Diffuse mesangial sclerosis, Delayed CNS myelination, Proteinuria, Stage 5 ch...	OMIM:619609
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Malabsorption, Splenomegaly, Mediastinal...	ORPHA:379
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp...	ORPHA:2237
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Dilated fourth ventricle, Optic disc pallor, Epicanthus, Short stature, Optic nerve hypoplasia, P...	OMIM:300749
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f...	ORPHA:2636
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Osteolysis	ORPHA:1052
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Wide nose, Short stature, Depressed nasal bridge, Broad nasal tip, Long nose, Wide...	OMIM:619995
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Short stature, Short neck, Kyphosis, Limitation of joint mobility, Abnormality of the...	ORPHA:3098
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Short neck, Kyphoscoliosis, Cryptorchidism, Synophrys, Delayed myelination...	OMIM:615803
Verheij Syndrome	Vertebral fusion, Short stature, Optic nerve hypoplasia, Anteverted nares, Short neck, Broad nasa...	OMIM:615583
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Optic disc pallor, Retinal dystrophy, Macular coloboma, Underdeveloped nasal alae, Elevated amnio...	ORPHA:423479
Heart Defects-Limb Shortening Syndrome	Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom...	ORPHA:1354
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Small scrotum, Renal cyst, Microphallus, Vesicoureteral reflux, Del...	OMIM:618454
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Hepatomegaly, Poor head control, Ataxia, 3-hydroxydicarbox...	OMIM:252010
46,Xx Gonadal Dysgenesis	Osteopenia, Osteoporosis of vertebrae, Arachnodactyly, Reduced bone mineral density	ORPHA:243
Singleton-Merten Syndrome 2	Osteopenia, Scoliosis, Osteolytic defects of the phalanges of the hand	OMIM:616298
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Triphalangeal thumb, Contracture of the...	ORPHA:2232
Biotinidase Deficiency	Hepatomegaly, Diffuse cerebral atrophy, Ataxia, Skin rash, Recurrent skin infections, Seborrheic ...	OMIM:253260
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Kyphos...	OMIM:225400
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Schaaf-Yang Syndrome	Short stature, Abnormality of the philtrum, Failure to thrive in infancy, Cryptorchidism, Kyphosi...	OMIM:615547
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Cataract, Astigmatism, Retinal coloboma, Nephrob...	ORPHA:500095
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Short stature, Anteverted nares, Depressed nasal bridge, Hypoplasia of the po...	OMIM:616430
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Short stature, Short neck, Inability to walk, Bulbous nose, Wide nasal bridge, Cleft ...	OMIM:618571
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Proteinuria, Hypoplasi...	OMIM:609049
Galloway-Mowat Syndrome 9	Cerebellar atrophy, Diffuse mesangial sclerosis, Hiatus hernia, Almond-shaped palpebral fissure, ...	OMIM:619603
Immunodeficiency 13	Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections	OMIM:615518
Nocardiosis	Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, M...	ORPHA:31204
Familial Infantile Myoclonic Epilepsy	Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus	ORPHA:352582
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho...	ORPHA:64753
Peho Syndrome	Cerebellar atrophy, Recurrent respiratory infections, Epicanthus, Palpebral edema, Anteverted nar...	ORPHA:2836
Familial Mediterranean Fever	Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis, Splenomegaly, Periton...	ORPHA:342
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, Op...	ORPHA:320375
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Male urethral meatus stenosis, Agenesis of corpus callosum, Anteverted nares...	ORPHA:464738
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Elbow flexion contract...	OMIM:608328
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr...	ORPHA:98908
Stt3A-Cdg	Cerebellar atrophy, Cryptorchidism, Micropenis, Small scrotum	ORPHA:370921
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly	OMIM:600649
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Ruvalcaba Syndrome	Short stature, Dental crowding, Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty, Limited elb...	OMIM:180870
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Spl...	ORPHA:91138
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Ciliary Dyskinesia, Primary, 22	Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms	OMIM:615444
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus, Azoospermia, B...	OMIM:601076
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop...	ORPHA:505248
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Hemifacial Atrophy, Progressive	Tongue atrophy, Ataxia, Kyphosis, Horner syndrome, Blepharophimosis	OMIM:141300
Cinca Syndrome	Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:1451
Blau Syndrome	Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Splenomegaly, Xer...	ORPHA:90340
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:98754
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Anteverted nares, Hypospadias, Kyphosis, Recurrent pneumonia, Cerebral atrophy, Cleft...	OMIM:616449
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Proximal muscle weakness, Progressive proximal muscle weakness, Pr...	OMIM:620138
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Cerebellar vermis hypoplasia, Respiratory insufficiency due to muscle weakness, Ky...	OMIM:618291
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Diffuse cerebral atrophy, Small scrotum, Partial agenesis of the corpus callosum, ...	OMIM:270400
Arthrogryposis, Distal, Type 5	Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, High palate, Scoliosis, ...	OMIM:108145
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Stage 5 chr...	OMIM:308940
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Pontocerebellar Hypoplasia, Type 17	Paroxysmal dystonia, Epicanthus, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kyphosis, ...	OMIM:619909
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal heart valve morphology, Pericardial effu...	ORPHA:36412
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Opti...	OMIM:609541
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Cryptorchidism, Pyloric stenosis, Horseshoe kidney	OMIM:218350
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration	OMIM:264420
Ciliary Dyskinesia, Primary, 30	Nasal congestion, Absent outer dynein arms, Nasal polyposis	OMIM:616037
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Post-Traumatic Pituitary Deficiency	Osteopenia, Osteoporosis of vertebrae	ORPHA:95619
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Anteverted nare...	ORPHA:261318
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:98793
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Conjunctival telangiectasia, Impaired vibration sensation in the lower limbs, Optic atrophy, Gait...	ORPHA:95433
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Severe short stature, Anteverted nares, Short neck, Hyperlordos...	ORPHA:1797
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Prader-Willi Syndrome	Osteopenia, Small hand, Osteoporosis, Increased susceptibility to fractures, Short foot, Hip dysp...	ORPHA:739
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma	OMIM:212550
Spinocerebellar Ataxia Type 7	Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Ophthalmoplegia, Babinski sign, Cerebral...	ORPHA:94147
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia,...	OMIM:304790
Jacobsen Syndrome	Recurrent respiratory infections, Epicanthus, Telecanthus, Anteverted nares, Depressed nasal brid...	OMIM:147791
Cockayne Syndrome Type 2	Hepatomegaly, Lower limb spasticity, Ataxia, Kyphosis, Cryptorchidism, Uveitis, Male hypogonadism...	ORPHA:90322
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, ...	OMIM:277900
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:177904
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia	OMIM:612138
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ...	OMIM:228300
Cartilage-Hair Hypoplasia	Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibial bowing, Hypocalcemia,...	ORPHA:175
Mucopolysaccharidosis, Type Vii	Short neck, Reduced leukocyte beta-glucuronidase activity, Anterior beaking of lumbar vertebrae, ...	OMIM:253220
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Osteoporosis, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:177901
Gillespie Syndrome	Cerebellar atrophy, Ataxia, Postural tremor, Slurred speech, Cerebellar hypoplasia	OMIM:206700
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Senior-Loken Syndrome 8	Retinal dystrophy, Macular atrophy, Hepatic cysts, Pancreatic cysts, Rod-cone dystrophy, Intrahep...	OMIM:616307
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Beaking...	ORPHA:97685
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Lower limb spasticity, Cerebral palsy, Ataxia, Abnormal neuron morphology, Precocio...	ORPHA:163681
Lymphoid Interstitial Pneumonia	Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney	ORPHA:79128
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome	Corpus callosum atrophy, Optic atrophy, Dystonic gait, Cerebral atrophy, Scoliosis, Diffuse cereb...	ORPHA:480898
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Intestinal malrotation, Abnormal...	ORPHA:404440
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc...	OMIM:612714
Bohring-Opitz Syndrome	Recurrent respiratory infections, Short stature, Anteverted nares, Depressed nasal bridge, Inabil...	ORPHA:97297
Rett Syndrome	Dystonia, Short stature, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spastici...	OMIM:312750
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy...	OMIM:278000
Ciliary Dyskinesia, Primary, 5	Recurrent sinusitis, Nasal polyposis, Chronic rhinitis	OMIM:608647
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Crisponi Syndrome	Camptodactyly of finger, Kyphosis, Narrow mouth, Flexion contracture, Limitation of joint mobilit...	ORPHA:1545
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c...	OMIM:616050
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo...	OMIM:613673
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein...	ORPHA:90797
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Sagittal craniosynostosis, Broad distal ph...	OMIM:218330
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Advanced ossification of carpal bones, C...	OMIM:615349
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Cystic Fibrosis	Absent vas deferens, Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality...	ORPHA:586
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Joint stiffness, Flexion contracture, Reduced bone mineral density, Abnormal circulating lipid co...	ORPHA:1979
19P13.12 Microdeletion Syndrome	Narrow nasal bridge, Epicanthus, Anteverted nares, Hypospadias, Short neck, Aplasia/Hypoplasia of...	ORPHA:254346
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Poor head control, Anteverted nares, Depressed nasa...	ORPHA:1934
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Cerebellar vermis hypoplasia, Wide nasal bridge, CNS hypomyelination, Micropenis, Recurrent aphth...	OMIM:615966
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ectopic kidney, Ab...	ORPHA:887
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien...	ORPHA:90291
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperlipidemia, Osteoporosis, Increased susceptibility to fractures	ORPHA:189427
Fountain Syndrome	Craniofacial hyperostosis, Short stature, Kyphosis, Thick lower lip vermilion, Gingival overgrowt...	ORPHA:3219
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Cerebellar atrophy, Prominent nasal bridge, Hyperlordosis, Sparse eyebrow, Kyphosis, Gait ataxia,...	OMIM:617011
Foxg1 Syndrome Due To 14Q12 Microdeletion	Epicanthus, Palpebral edema, Depressed nasal bridge, Kyphosis, Bulbous nose, Growth delay, Macrog...	ORPHA:261144
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Scapuloperoneal Spinal Muscular Atrophy	Torticollis, Broad-based gait, Peroneal muscle weakness, Facial palsy, Progressive distal muscle ...	OMIM:181405
Cystic Fibrosis	Hepatomegaly, Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Biliary cirrhosis, Hepatos...	OMIM:219700
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Cleft palate, Hypertrophic cardiomyopathy, ...	OMIM:616897
Ciliary Dyskinesia, Primary, 2	Nasal polyposis, Absent inner and outer dynein arms	OMIM:606763
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro...	OMIM:607326
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Cerebellar atrophy, Renal insufficiency, Postural tremor, Proteinuria, Action tremor, Unsteady ga...	OMIM:254900
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Metaphyseal chondrodysplasia, Reduced bone mineral density	ORPHA:83629
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
8P Inverted Duplication/Deletion Syndrome	Anteverted nares, Short neck, Precocious puberty, Cryptorchidism, Synophrys, High, narrow palate,...	ORPHA:96092
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Hepatomegaly, Epicanthus, Elevated hepatic transaminase, Depressed nasal brid...	OMIM:261515
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Retinal degeneration	OMIM:616896
Koolen-De Vries Syndrome	Ureteral duplication, High, narrow palate, Vertebral segmentation defect, Vesicoureteral reflux, ...	ORPHA:96169
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged polycysti...	ORPHA:744
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi...	OMIM:617994
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Hyperphosphatasia-Intellectual Disability Syndrome	Short neck, Anteriorly placed anus, High palate, Cerebral hypomyelination, Bifid uvula, Ataxia, H...	ORPHA:247262
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps...	ORPHA:324410
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Prominent nose, Corpus callosum atrophy, Kyphosis, Cryptorchidism, Cerebra...	OMIM:619244
Bilateral Polymicrogyria	Cerebellar atrophy, Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Facial di...	ORPHA:268940
Retinitis Punctata Albescens	Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm...	ORPHA:52427
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Renal cyst, Abnormality of...	ORPHA:1606
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Elevated circulating growth hor...	ORPHA:562
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, High palate, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Bare Lymphocyte Syndrome, Type I	Nasal polyposis	OMIM:604571
Ciliary Dyskinesia, Primary, 15	Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis	OMIM:613808
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the ...	ORPHA:454840
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro...	OMIM:614700
Hypomelanosis Of Ito	Kyphosis, Epicanthus, Scoliosis, Cerebral atrophy	OMIM:300337
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Gastroesophageal reflux, Splenic cy...	OMIM:618188
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Generalized osteoporosis, Camptodactyly	OMIM:612313
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Alg9-Cdg	Villous atrophy, Short neck, Shallow orbits, Bifid uvula, Hepatomegaly, Rhizomelia, Depressed nas...	ORPHA:79328
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Bo...	ORPHA:1775
Fanconi Anemia, Complementation Group L	Short neck, Micropenis, Delayed CNS myelination, Esophageal atresia, Wide nasal bridge, Renal hyp...	OMIM:614083
Harrod Syndrome	Cryptorchidism, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na...	ORPHA:2115
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly	OMIM:614702
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro...	OMIM:268315
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Hepatosplenomeg...	ORPHA:313855
Canavan Disease	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:141
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti...	ORPHA:2686
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st...	OMIM:129900
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hyperextensibi...	OMIM:254090
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Scoliosis, Anterior beakin...	ORPHA:93
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J...	OMIM:208500
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Congenital kyphoscoliosis, Congenital hip dislocation, Arachnodactyly, Kyphoscoliosis...	ORPHA:536545
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Splenomegaly, Multiple small medull...	OMIM:216360
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Protruding tongue, Postnata...	OMIM:301040
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Kyphosis, Obesity, Scoliosis, Microdontia, Synostosis of carpal bones	ORPHA:3191
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Elevated circulating creatine kinase concentration, Cachexia...	ORPHA:1933
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Macroglossia	OMIM:268800
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hypertonia, Hepatic steatosis, Hepatomegaly, Chilblains, Hepatitis, Nephrotic...	OMIM:615846
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ...	ORPHA:83628
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Frontonasal Dysplasia 2	Telecanthus, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Sparse eyelashes, Aplas...	OMIM:613451
Mucopolysaccharidosis, Type Ii	Papilledema, Hepatomegaly, Severe short stature, Short stature, Decreased iduronate sulfatase lev...	OMIM:309900
Thyroid Lymphoma	Goiter, Dysphagia, Lymphadenopathy	ORPHA:97285
Glycerol Kinase Deficiency	Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia	OMIM:307030
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Adrenomyodystrophy	Reduced bone mineral density	ORPHA:977
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Neurogenic bladder, Delayed myelination, Optic atrophy, Cerebral hypomyelinat...	OMIM:616683
Argininemia	Cerebellar atrophy, Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Oroticaci...	OMIM:207800
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Hypoalbumi...	OMIM:613658
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gl...	OMIM:154500
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Papa Syndrome	Proteinuria, Crohn's disease, Lymphadenopathy	ORPHA:69126
Tarp Syndrome	Meckel diverticulum, Cerebellar vermis hypoplasia, Anteverted nares, Optic atrophy, Wide nasal br...	OMIM:311900
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Cleft palate, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetral...	ORPHA:3320
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Asplenia, Absent outer dynein arms, Anosmia, Chronic rhinitis	OMIM:244400
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Cleft palate	ORPHA:247768
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Underdeveloped nasal alae, Hypoautofluorescent retinal lesion, Thick vermilion border, Rod-cone d...	OMIM:250410
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E...	ORPHA:2363
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Cerebellar atrophy, Ataxia, Optic atrophy, Dementia, Cataplexy, Memory impairment, Spasticity	OMIM:604121
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to gr...	OMIM:604292
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Delayed CNS myelination, Anteverted nares, Depressed nasal bridge, Highly arched ey...	OMIM:619005
Hypoparathyroidism, Familial Isolated, 1	Nephrocalcinosis, Cataract	OMIM:146200
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumb...	ORPHA:3079
X-Linked Intellectual Disability, Cabezas Type	Epicanthus, Broad-based gait, Short stature, Hypoplasia of penis, Short neck, Tremor, Kyphosis, S...	ORPHA:85293
Donohue Syndrome	Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel...	OMIM:246200
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Scoliosis	OMIM:252605
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Postencephalitic Parkinsonism	Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Bilat...	ORPHA:97349
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Decreased circulating total Ig...	OMIM:612301
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Kyphoscoliosis, Short thumb, Osteoporosis, Small hand, Short foot, Sh...	OMIM:268400
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the cerebellum, Chronic otitis media...	ORPHA:280
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas...	OMIM:618394
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to...	ORPHA:3063
Pseudoachondroplasia	Joint laxity, Lumbar hyperlordosis, Limited hip extension, Hypoplasia of the odontoid process, Ky...	OMIM:177170
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ...	ORPHA:1772
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Retinal degeneration	OMIM:615249
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea	OMIM:235555
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr...	ORPHA:67042
Neuromuscular Oculoauditory Syndrome	Epicanthus, Poor head control, Unsteady gait, Peripheral hypomyelination, Multiple renal cysts, R...	OMIM:618733
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis	OMIM:255120
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Bulbar palsy, Exaggerated startle response, Rigidity, Kyphosis, Delayed myelination, Babinski sig...	OMIM:617527
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Progressive proximal muscle ...	ORPHA:368
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Vertebral fusion, Hyperlordosis, Proximal muscle weakness, Kyphosis, Exercise-indu...	OMIM:607155
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Short stature, Ataxia, Optic atrophy, Abnormal CNS myelination, Hypogonadism	OMIM:610651
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo...	ORPHA:2655
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Overweight, Atrophy of the spinal cord, Abnormality of pattern visual ev...	ORPHA:2822
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic...	OMIM:127000
Cowden Syndrome 1	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:158350
9P13 Microdeletion Syndrome	Epicanthus, Short stature, Anteverted nares, Highly arched eyebrow, External genital hypoplasia, ...	ORPHA:324313
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli...	OMIM:616468
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasia of the uterus, ...	OMIM:154230
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, High palate, Scoliosis	OMIM:300676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase...	OMIM:236670
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Short stature, Decreased response to growth hormone stimulation test, Cerebra...	OMIM:618922
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Hepati...	ORPHA:42
Acute Transverse Myelitis	Back pain, Urinary incontinence, Dissociated sensory loss, Impaired proprioception, Upper limb mu...	ORPHA:139417
Pediatric Systemic Lupus Erythematosus	Dark urine, Abnormality of the gastrointestinal tract, Renal insufficiency, Proteinuria, Pericard...	ORPHA:93552
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne...	ORPHA:99429
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Villous atrophy, Bicuspid aortic valve, Ventricular septal de...	ORPHA:84064
White-Sutton Syndrome	Cerebellar atrophy, Delayed CNS myelination, Incoordination, Short stature, Depressed nasal bridg...	ORPHA:468678
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Optic disc pallor, External ophthalmoplegia, Optic atrophy, Growth delay, Spa...	ORPHA:485421
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology...	ORPHA:1215
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Scoliosis, Congenital foot contractures	ORPHA:3454
Bent Bone Dysplasia Syndrome 2	Osteopenia, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing, Coronal cleft vertebrae, De...	OMIM:620076
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Narrow palate, Macroglossia, High pala...	OMIM:617022
Spastic Paraplegia 15, Autosomal Recessive	Macular degeneration, Retinal degeneration	OMIM:270700
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy	ORPHA:343
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia	ORPHA:85212
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Osteoporosis, Gout, Increa...	ORPHA:79259
Aniridia 3	Aniridia, Cataract	OMIM:617142
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Cerebellar atrophy, Hypoparathyroidism, Depressed nasal bridge, Precocious puberty, High, narrow ...	ORPHA:369837
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Abnormality of the lymphatic system, Abnorma...	ORPHA:538
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Ruvalcaba Syndrome	Dental crowding, Cryptorchidism, Thin vermilion border, Narrow mouth, Abnormality of visual evoke...	ORPHA:3121
Schinzel-Giedion Syndrome	Short neck, Vocal cord paralysis, Renal cyst, Chiari type I malformation, Anteriorly placed anus,...	ORPHA:798
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Gm1-Gangliosidosis, Type I	Hepatomegaly, Severe short stature, Short neck, Kyphosis, Splenomegaly, Depressed nasal ridge, Hy...	OMIM:230500
Prolactinoma	Osteopenia, Osteoporosis	ORPHA:2965
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,...	ORPHA:477817
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Abnormality of the spleen, Abnormality of the liver, G...	ORPHA:33276
3M Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short...	ORPHA:2616
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, Short stature, Epiblep...	OMIM:618367
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Neph...	OMIM:269700
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Slc39A8-Cdg	Cerebellar atrophy, Poor head control, Short stature, Inability to walk, Recurrent infections, Ab...	ORPHA:468699
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Di...	ORPHA:398124
White-Sutton Syndrome	Failure to thrive, Depressed nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Obesity, Clef...	OMIM:616364
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Malabsorption...	ORPHA:912
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocyto...	ORPHA:77293
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gliosis, ...	ORPHA:268261
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Epicanthus, Telecanthus, Ataxia, Broad-based gait, Exaggerated startle resp...	ORPHA:438216
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Elevated circulating creatine kinase conce...	ORPHA:79323
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Functional intestinal obstruction, Tricuspid stenosis, Chronic noninfectious lympha...	ORPHA:100079
Congenital Disorder Of Deglycosylation 1	Elevated circulating alpha-fetoprotein concentration, Osteoporosis, Small hand, Short foot, Scoli...	OMIM:615273
Periventricular Nodular Heterotopia	Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux	ORPHA:98892
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Anal atresia, Short stature, Intestinal malrotation, Hypospadias, ...	OMIM:617602
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 6	Herpes simplex encephalitis, Recurrent aphthous stomatitis	OMIM:614850
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:168558
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str...	OMIM:252500
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Short neck, Renal cyst, Agenesis ...	OMIM:229850
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Cerebrofacioarticular Syndrome	Epicanthus, Cerebellar vermis hypoplasia, Ataxia, Short stature, Anal stenosis, Hypospadias, Bila...	ORPHA:314679
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Urinary incontinence,...	ORPHA:2729
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+...	OMIM:606367
Cowden Syndrome 6	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:615109
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Nephrolithiasis, Polycystic o...	OMIM:608594
Intellectual Developmental Disorder, Autosomal Dominant 54	Cerebellar atrophy, Lower limb spasticity, Poor head control, Ataxia, Eczema, Short stature, Inab...	OMIM:617799
Koolen-De Vries Syndrome Due To A Point Mutation	Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, V...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Pineal cyst, Chiari type I malformation, V...	ORPHA:363958
Congenital Tracheal Stenosis	Ventricular septal defect, Fetal ascites, Abnormal stomach morphology, Abnormality of the ureter,...	ORPHA:141127
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Glycogen Storage Disease Of Heart, Lethal Congenital	Cataract, Enlarged kidney, Cardiomegaly	OMIM:261740
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Osteoporosis, Reduced bone mineral density, Abnormal circulating chol...	ORPHA:289548
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Decreased response to growth hormone stimulation test, Short neck, Synophrys, Hemivertebrae, High...	OMIM:213980
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Osteoporosis, Jo...	ORPHA:565
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Short neck, Cryp...	ORPHA:2311
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Retinal atrophy, Abnormal retinal morphology, Elevated circulating creatine kinase ...	ORPHA:2785
Oeis Complex	Hydroureter, Intestinal malrotation, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous g...	OMIM:258040
Cowden Syndrome 5	Colonic diverticula, Furrowed tongue, Hydrocele testis, Ovarian cyst, Hamartomatous polyposis, Hi...	OMIM:615108
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Prominent nose, High, narrow palate, Thick nasal alae, Broad columella, Delayed CNS m...	OMIM:619950
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract...	OMIM:166200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Hypermobile Ehlers-Danlos Syndrome	Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflexibility...	ORPHA:285
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Polycystic ovaries	ORPHA:79085
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Chromosome 14Q11-Q22 Deletion Syndrome	Anterior pituitary hypoplasia, Bilateral cryptorchidism, Hypertonia, High palate, Agenesis of cor...	OMIM:613457
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo...	ORPHA:90793
Galloway-Mowat Syndrome 3	Cerebellar atrophy, Diffuse mesangial sclerosis, Epicanthus, Short stature, Proteinuria, Hiatus h...	OMIM:617729
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent viral infections, Recurrent aspiration pneumonia, Intention tremor, Psoriasiform dermat...	ORPHA:221139
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly...	ORPHA:935
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Depressed nasal ridge, Hepatomegaly, Chronic lymphocytic meningitis, Ataxia...	ORPHA:99843
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Gastrointestinal obstr...	ORPHA:100078
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Short stature, Abnormal dental enamel morphology, Macrodontia, Kyphosis, Hemive...	ORPHA:2916
Stickler Syndrome, Type I	Joint stiffness, Kyphosis, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cl...	OMIM:108300
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Marshall-Smith Syndrome	Thoracic scoliosis, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, Hy...	OMIM:602535
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op...	ORPHA:352731
Retinitis Pigmentosa 23	Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti...	OMIM:300424
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Anteverted nares, Clonus, Supernumerary nipple, Narrow nasal tip, Sparse eyebrow, Bilateral ptosi...	ORPHA:477993
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Epicanthus, Urinary incontinence, Tremor, Kyphosis, Synophrys, Congenital ptosis, Recurrent infec...	ORPHA:476126
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bones, Broad f...	ORPHA:488434
Cone-Rod Dystrophy 8	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter...	OMIM:605549
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Exstrophy-Epispadias Complex	Bifid scrotum, Abnormality of the gastrointestinal tract, Renal insufficiency, Anal stenosis, Uri...	ORPHA:322
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Polyc...	ORPHA:171
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, ...	ORPHA:2137
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fin...	ORPHA:1883
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Subcortical cerebral atrophy, Conjunctivitis, Agenesis of co...	ORPHA:2273
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries	ORPHA:435651
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Marden-Walker Syndrome	Epispadias, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Bifid uvula, Abno...	ORPHA:2461
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Fused cervical ve...	ORPHA:2522
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t...	ORPHA:98813
Atypical Werner Syndrome	Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Rocker bottom foot,...	ORPHA:79474
15Q14 Microdeletion Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, L...	ORPHA:261190
Oculocerebral Hypopigmentation Syndrome, Preus Type	Arachnodactyly, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bone morph...	ORPHA:2720
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Mucolipidosis Iii Alpha/Beta	Retinopathy, Increased serum beta-hexosaminidase, Retinal degeneration	OMIM:252600
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Abnormal mesentery morphology, Cryptorchidis...	ORPHA:2075
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Pyloric stenosis, Renal hypoplasi...	ORPHA:3138
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a...	OMIM:146255
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, High palate, Polycystic ovaries	ORPHA:284180
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Dy...	OMIM:252930
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Hypoplasia of penis, Short stature, Short neck, Kyphosis, Cryptorchidism, Up...	ORPHA:3082
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Waddling gait, Hyperlordosis, Short neck, Kyp...	ORPHA:98863
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Kyphosis, Joint hyperflexibility, High palate, Short philtrum, Scolios...	ORPHA:2479
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy...	ORPHA:2035
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Meckel Syndrome 12	Agenesis of cerebellar vermis, Anteverted nares, Ureteral hypoplasia, Antecubital pterygium, Wide...	OMIM:616258
Sclerosteosis 1	Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost...	OMIM:269500
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy...	OMIM:614921
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Nephrolithiasis, Abnormal fallopian tube morphology, Abnormality of t...	ORPHA:722
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky...	ORPHA:558
Multiple Endocrine Neoplasia Type 1	Increased susceptibility to fractures, Hypercalcemia, Osteolysis, Reduced bone mineral density	ORPHA:652
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Short neck, Abnormal form of the vertebral bodies, Hypertonia, Aplasia/Hypop...	ORPHA:818
Melkersson-Rosenthal Syndrome	Macroglossia, Furrowed tongue, Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:613983
Cone-Rod Dystrophy 2	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro...	OMIM:120970
Robinow Syndrome, Autosomal Dominant 3	Short neck, Anteriorly placed anus, Clitoral hypoplasia, Vesicoureteral reflux, Micropenis, Short...	OMIM:616894
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Skin Creases, Congenital Symmetric Circumferential, 1	Epicanthus, Depressed nasal bridge, Short neck, Cleft palate, Upslanted palpebral fissure, High p...	OMIM:156610
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, High, narrow palate, Scoliosis, Joint hyperflexibility	ORPHA:2181
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Dysphagia, Ascite...	OMIM:608013
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Lateral Meningocele Syndrome	Vertebral fusion, Telecanthus, Neurogenic bladder, Short stature, Short neck, Kyphosis, Cryptorch...	OMIM:130720
Thanatophoric Dysplasia Type 2	Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Fla...	ORPHA:93274
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Coxa valga, Osteoporosis, Hip dislocation, Osteo...	OMIM:182250
Trisomy 8P	Sacral dimple, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Recurrent up...	ORPHA:264450
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Lymphopenia	OMIM:605309
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Abnormality of...	ORPHA:33226
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple...	OMIM:612541
Retinitis Pigmentosa 45	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:613767
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele...	OMIM:612964
Mgat2-Cdg	Reduced level of N-acetylglucosaminyltransferase II, Kyphosis, Long eyelashes, Cerebellar hypopla...	ORPHA:79329
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Polycystic ovaries, Cardiomyopathy, Cirrhosis, Hep...	ORPHA:79086
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Hyperlordosis, Short neck, Cryptorchidism, Kyphosis, ...	ORPHA:2789
Cone-Rod Dystrophy 10	Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of...	OMIM:610283
Hypotrichosis With Juvenile Macular Degeneration	Macular degeneration, Abnormality of macular pigmentation	ORPHA:1573
Warburg Micro Syndrome 2	Small scrotum, Prominent nasal bridge, Cryptorchidism, Short nose, Optic atrophy, Undetectable vi...	OMIM:614225
Myasthenic Syndrome, Congenital, 20, Presynaptic	Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalmoparesis, Fatigable weakn...	OMIM:617143
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphade...	ORPHA:32960
Distal Deletion 12Q	Short neck, Ectopic kidney, High, narrow palate, Biliary atresia, Vesicoureteral reflux, Micropen...	ORPHA:96149
Oculoskeletodental Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Hypercalciuria, Macroglossia, Mucopolysacchariduria, ...	OMIM:618440
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp...	OMIM:614129
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Malabsorption, Pyloric stenosis,...	ORPHA:2136
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Decreased serum iron, Epi...	OMIM:616959
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Waddling gait, Hyperlordosis, Spinal rigidity...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Waddling gait, Hyperlordosis, Spinal rigidity...	ORPHA:98853
Orofaciodigital Syndrome Type 1	Tremor, Lobulated tongue, High palate, Chronic otitis media, Agenesis of corpus callosum, Dandy-W...	ORPHA:2750
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Noonan Syndrome 14	Epicanthus, Lacrimal duct stenosis, Short stature, Prominent nasal bridge, Short neck, Sparse eye...	OMIM:619745
Multiple Myeloma	Osteopenia, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating cr...	ORPHA:29073
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Abnormal labia majora morphology, Polycystic ovaries	ORPHA:435660
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Nephrotic syndrome, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Prominent nasal bridge, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait atax...	ORPHA:457359
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi...	ORPHA:284984
Weaver Syndrome	Epicanthus, Delayed CNS myelination, Depressed nasal bridge, Kyphosis, Cryptorchidism, Slurred sp...	OMIM:277590
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Cardiomegaly, Splenomegaly, Macroglossia	OMIM:232300
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Cerebellar hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Pagod Syndrome	Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Agonadism, Hypop...	ORPHA:991
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Zttk Syndrome	Hemivertebrae, High palate, Bifid uvula, Absent gallbladder, Short stature, Depressed nasal bridg...	OMIM:617140
Primrose Syndrome	Hip contracture, Calcification of the auricular cartilage, Joint hypermobility, Elevated circulat...	OMIM:259050
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Short nasal bridge, Retinal atrophy, Elevated circulating creatine kinase concentration, Optic at...	OMIM:253280
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cholangitis, Macular degeneration, Widely spaced teeth, High palate, Hepatic fibrosis, Microdonti...	OMIM:266920
Osteootohepatoenteric Syndrome	Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Reduced bone mineral de...	OMIM:619377
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Pylo...	OMIM:618419
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration	ORPHA:168549
Cohen Syndrome	Short stature, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dentition, Failu...	ORPHA:193
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Hypospadias, Prominent nasal bridge, Unilateral renal agenesis, Kyphosis, Cryp...	ORPHA:464311
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Short stature, Ataxia, Kyphoscoliosis, Inability to walk, Spasticity, Cleft palate, Upslanted pal...	ORPHA:488642
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Long nose, Opisthotonus, Hypertonia, Abnormality of the cervical ...	ORPHA:508533
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Aplastic anemia, A...	ORPHA:221016
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Smooth philtrum, Anteverted nares, Tented philtrum, Absent scrotum, Long philtrum, Retinal degene...	OMIM:618479
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane...	ORPHA:2909
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly, Anemia	ORPHA:86309
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Gastritis, Autoimmune thrombocytopenia, Malabsorption, Splenomegaly,...	ORPHA:37042
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Giant Cell Arteritis	Glossitis, Pericarditis, Renal insufficiency, Ataxia, Epistaxis, Recurrent pharyngitis, Optic atr...	ORPHA:397
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Cleft palate, Hypoplasia of ...	OMIM:309801
Neuroendocrine Tumor Of The Colon	Melena, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morpho...	ORPHA:100080
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ...	ORPHA:731
Complement Component 4B Deficiency	Chronic active hepatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Menin...	OMIM:614379
Pelger-Huet Anomaly	Abnormality of the dentition, Kyphosis, Gingival overgrowth, Mild short stature, Failure to thriv...	OMIM:169400
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bones, Triangu...	OMIM:271665
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis	OMIM:617219
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Renal cyst, Micropenis, Pelvic kidney, Abnormality of the cervical...	ORPHA:464306
Knobloch Syndrome 1	Cerebellar atrophy, Optic disc pallor, Epicanthus, Telecanthus, Ataxia, Depressed nasal bridge, P...	OMIM:267750
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Thick lower lip vermilion, Disprop...	ORPHA:583
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Small scrotum, Prominent nasal bridge, Kyphosis, Cryptorchidism, Abnormal l...	ORPHA:2215
Atelosteogenesis Type I	Telecanthus, Rhizomelia, Malrotation of colon, Cleft palate, Coronal cleft vertebrae, Platyspondy...	ORPHA:1190
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph...	ORPHA:1572
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Calcinosis, Aplastic anemia, M...	ORPHA:221008
3Mc Syndrome 2	Torticollis, Hypospadias, Prominent nasal bridge, Highly arched eyebrow, Postnatal growth retarda...	OMIM:265050
Beck-Fahrner Syndrome	High palate, Ventricular septal defect, Cardiomegaly	OMIM:618798
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Flexion...	OMIM:619040
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Bilateral cryptorchidism, Pyloric stenosis, High palate	ORPHA:314575
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Narrow nasal bridge, Ataxia, Kyphoscoliosis, Prominent nose, Tremor, Dysplastic c...	OMIM:300967
Majeed Syndrome	Hepatomegaly, Proteinuria, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytos...	ORPHA:77297
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Cleft upper lip, Crypt...	OMIM:610443
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Decreased motor nerve conduction velocity, Optic disc pallor, Anosmia, Optic atrophy, Abnormality...	OMIM:601152
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Retinal hemorrhage, Angioid streaks of the fundus, Macular degeneration, Hig...	OMIM:177850
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrau...	OMIM:620133
Opitz Gbbb Syndrome	Telecanthus, Cerebellar vermis hypoplasia, Abnormal nasopharynx morphology, Anteverted nares, Hyp...	OMIM:300000
Monosomy 22Q13.3	Ptosis, Epicanthus, Sacral dimple, Recurrent skin infections, Palpebral edema, Impaired pain sens...	ORPHA:48652
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey...	OMIM:615873
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Limited elbow movement, Sagittal craniosynostosis, Asplenia, Shor...	ORPHA:221120
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Ovarian cyst	ORPHA:327
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Cirrhosis, Polycystic ovaries	OMIM:604367
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:99880
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Downturne...	OMIM:265000
Pantothenate Kinase-Associated Neurodegeneration	Pallidal degeneration, Abetalipoproteinemia, Bull's eye maculopathy, Optic atrophy, Pigmentary re...	ORPHA:157850
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Absent vas deferens, Pyloric sten...	ORPHA:93111
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P...	ORPHA:280365
Ring Chromosome 7 Syndrome	Unilateral ptosis, Bifid uvula, Median cleft palate, Short stature, Anteverted nares, Highly arch...	ORPHA:1449
Intellectual Developmental Disorder, Autosomal Dominant 57	Telecanthus, Epicanthus, Short stature, Prominent nasal bridge, Broad nasal tip, Kyphosis, Upslan...	OMIM:618050
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu...	ORPHA:424016
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Feingold Syndrome	Short stature, Anteverted nares, Depressed nasal bridge, Abnormality of the spleen, Esophageal at...	ORPHA:1305
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Premature thelarche, Renal salt wasting, Isosexual precocious puberty, Prec...	ORPHA:90795
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Rena...	OMIM:610199
Craniofrontonasal Syndrome	Telecanthus, Unilateral breast hypoplasia, Short stature, Hypospadias, Short neck, Bifid nasal ti...	OMIM:304110
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Dilated cardiomyopat...	OMIM:615688
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Bone Marrow Failure Syndrome 3	Chromosome breakage, Epicanthus, Short stature, Eczema, Pancreatic steatosis, Cryptorchidism, Rec...	OMIM:617052
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia	ORPHA:90037
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Kyphosis, Cle...	ORPHA:140
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Parathyroid Carcinoma	Osteoporosis, Hypercalcemia, Hypophosphatemia	ORPHA:143
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Tapered finger, Osteoporosis, Lower-limb joint contracture, Scoliosis, Short fing...	ORPHA:459070
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella...	ORPHA:331235
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete...	OMIM:614527
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Moderate post...	ORPHA:1005
Carney Complex	Pituitary growth hormone cell adenoma, Neoplasm of the stomach, Leydig cell neoplasia, Ovarian se...	ORPHA:1359
Satoyoshi Syndrome	Hypoplasia of the uterus, Malabsorption	OMIM:600705
Ataxia With Vitamin E Deficiency	Abnormality of visual evoked potentials, Abnormality of retinal pigmentation	ORPHA:96
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Everted upper lip vermilion, Camptodactyly of finger, Supernumerary nipple,...	OMIM:619951
Fanconi Anemia, Complementation Group D2	Short stature, Hypergonadotropic hypogonadism, Blepharophimosis, Ectopic kidney, Cryptorchidism, ...	OMIM:227646
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Epicanthus, Delayed CNS myelination, Hydroureter, Supernumerary nipple, Short neck, Prominent cru...	OMIM:619194
Mucopolysaccharidosis Type 3	Hepatomegaly, Thick nasal alae, Malabsorption, Abnormality of the dentition, Splenomegaly, Adenoi...	ORPHA:581
Tarp Syndrome	Broad-based gait, Anteverted nares, Cryptorchidism, Optic atrophy, Wide nasal bridge, Cleft palat...	ORPHA:2886
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Hypoplasia of eyelid, Optic nerve hypoplasia, Short stature, Convex nasal ridge, Cleft soft palat...	OMIM:619321
Say-Barber-Miller Syndrome	Prominent nasal bridge, Broad nasal tip, Carious teeth, Cryptorchidism, Optic atrophy, Macular de...	ORPHA:3132
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture...	ORPHA:98855
Pseudoxanthoma Elasticum	Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse...	OMIM:264800
Mucopolysaccharidosis Type 2	Papilledema, Abnormality of retinal pigmentation, Hepatomegaly, Wide nose, Abnormal foveal morpho...	ORPHA:580
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:100082
Orofaciodigital Syndrome I	Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Abnormal heart morphology, Tong...	OMIM:311200
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Macular atrophy, Elevated ...	OMIM:242840
Microphthalmia, Lenz Type	Hydroureter, Short stature, Hypospadias, Hyperlordosis, Kyphosis, Cryptorchidism, Optic disc colo...	ORPHA:568
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Cole-Carpenter Syndrome	Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Recurrent fractures,...	ORPHA:2050
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Atrial septal defect, Meckel diverticulum, Ventricular septal defect, Eosin...	OMIM:274000
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Multicentric ossification of proximal femoral epiphyses, Short neck, Postna...	OMIM:223800
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis...	ORPHA:263479
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st...	ORPHA:44890
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Isolated Biliary Atresia	Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholi...	ORPHA:30391
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne...	ORPHA:512
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, S...	ORPHA:364577
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic...	OMIM:619573
Saccharopinuria	Hypercystinemia, Hyperammonemia, Abnormality of circulating enzyme level, Elevated plasma citrull...	ORPHA:3124
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t...	ORPHA:2911
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Pyloric stenosis, Cleft palate, Abnormal heart morpho...	ORPHA:261197
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Epicanthus, Telecanthus, Anteverted nares, Aganglionic megacolon, Hypo...	ORPHA:3339
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hepa...	ORPHA:699
Leber Congenital Amaurosis 15	Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg...	OMIM:613843
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Allergic rhinitis, Eczema, Elevated circulating alkaline phosphatase concentration, C...	OMIM:618162
Osteogenesis Imperfecta, Type Vii	Osteopenia, Crumpled long bones, Recurrent fractures, Femoral retroversion, Bowing of the legs, M...	OMIM:610682
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
2Q31.1 Microdeletion Syndrome	Epicanthus, Short stature, Short neck, Kyphosis, Synophrys, Optic disc coloboma, Cryptorchidism, ...	ORPHA:251014
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Pontocerebellar Hypoplasia Type 7	Hypertonia, High palate, Microphallus, Absent penis, Micropenis, Depressed nasal bridge, Fatigabl...	ORPHA:284339
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis	ORPHA:79107
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous genitalia, Single...	OMIM:619879
Chops Syndrome	Ventricular septal defect, Splenomegaly, Cryptorchidism, High, narrow palate, Anomalous pulmonary...	OMIM:616368
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism	OMIM:613546
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Foot joint contracture, Abnormal circulating selenium concentration, Flexion contract...	ORPHA:79408
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Meacham Syndrome	Enlarged kidney, Horseshoe kidney	OMIM:608978
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, C...	OMIM:263520
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Splenomegaly, Intestinal malrotation	ORPHA:3035
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Distal Triplication 15Q	Craniosynostosis, Large for gestational age, Kyphosis, Flexion contracture, Hydrocele testis, Hig...	ORPHA:314588
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99228
Monosomy X	Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:99226
3-Methylglutaconic Aciduria, Type Viia	Cerebellar atrophy, Delayed CNS myelination, 3-Methylglutaconic aciduria	OMIM:619835
Turner Syndrome	Osteopenia, Hypermobility of toe joints, Kyphosis, Short toe, Enlargement of the distal femoral e...	ORPHA:881
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial polyda...	OMIM:610168
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Scedosporiosis	Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ...	ORPHA:449280
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Malabs...	ORPHA:47
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visce...	ORPHA:2905
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit...	OMIM:601457
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Delayed CNS myelination, Inability to walk, Recurrent infections, Truncal ata...	OMIM:620066
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Chronic otitis media, Hypoplastic...	ORPHA:1507
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st m...	ORPHA:79443
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Splenomegal...	OMIM:269860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Biliary hyperplasia, Choanal stenosis, Micropenis, Pancreatic hypoplasi...	ORPHA:83617
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Cushing Disease	Leukocytosis, Osteoporosis, Decreased eosinophil count, Vertebral compression fracture, Lymphopenia	ORPHA:96253
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
16Q24.3 Microdeletion Syndrome	Anteverted nares, Optic nerve hypoplasia, Highly arched eyebrow, Kyphosis, Cryptorchidism, Upslan...	ORPHA:261250
Developmental And Epileptic Encephalopathy 3	Abnormality of visual evoked potentials, Brain atrophy, Cerebral atrophy	OMIM:609304
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Gastrointestinal inflammation, ...	ORPHA:39812
Autosomal Dominant Robinow Syndrome	Hypoplasia of penis, Short neck, High, narrow palate, Epispadias, Hemivertebrae, Abnormal form of...	ORPHA:3107
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Decreased response to growth hormone...	ORPHA:1855
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, High palate, Cardiomegaly	ORPHA:2463
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Gast...	OMIM:620233
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Prominent nose, High palate, Aplasia/Hypoplasia of the cerebellum, ...	ORPHA:480880
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Caudate atrophy, Optic atrophy, Abnormality of visual evoked...	ORPHA:52368
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Epicanthus, Aplasia of the thymus, Decreased response to growth hormone stimu...	OMIM:618223
Coffin-Siris Syndrome 1	Ectopic kidney, Partial agenesis of the corpus callosum, Gait ataxia, High palate, Spina bifida o...	OMIM:135900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Macroglossia, Left ventricular hypertrophy, Hyper...	ORPHA:308552
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Nasal congestion, Optic disc pallor, Rod-cone dystrophy, Macular atrophy	OMIM:615434
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Cleft palate	ORPHA:137675
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration	ORPHA:542306
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet vo...	OMIM:222470
Nephronophthisis 11	Hepatic fibrosis, Retinal degeneration	OMIM:613550
Ogden Syndrome	Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly	OMIM:300855
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Osteoporosis, Leukopenia, Bone marrow hyp...	OMIM:305000
Stromme Syndrome	Accessory spleen, Cerebellar vermis hypoplasia, Jejunal atresia, Optic nerve hypoplasia, Prominen...	OMIM:243605
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Estrogen Resistance	Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries	OMIM:615363
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal inte...	OMIM:607015
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia	OMIM:617591
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Short s...	OMIM:203800
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge...	ORPHA:83471
Bangstad Syndrome	Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries	ORPHA:1227
Neonatal Alloimmune Neutropenia	Severe infection, Meningitis, Pneumonia, Jaundice	ORPHA:464370
Aniridia 1	Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,...	OMIM:106210
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus, Gastroesophageal r...	OMIM:613177
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Short neck, High, narrow palate, Vertebral segmentatio...	ORPHA:373
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ...	ORPHA:261494
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus	OMIM:617914
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Glandular hypospadias, Cerebral atrophy, Limb hypertonia	OMIM:620306
Coffin-Siris Syndrome 4	Narrow nasal bridge, Thick eyebrow, Wide nose, Short stature, Anteverted nares, Depressed nasal b...	OMIM:614609
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Carney Triad	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Lymphade...	ORPHA:139411
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e...	OMIM:619991
Tsh-Secreting Pituitary Adenoma	Osteopenia, Hypokalemia, Osteoporosis	ORPHA:91347
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Dysphagia, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Knobloch Syndrome	Dextrocardia, Pyloric stenosis, Vesicoureteral reflux, Lymphangioma, Bifid ureter	ORPHA:1571
Infantile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Cachexia, Decreased ner...	ORPHA:206436
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Abnormality of visual evoked potentials, Brain atrophy, Gingivitis	OMIM:614457
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Depressed nasal bridge, Ur...	OMIM:616482
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re...	OMIM:614643
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Joint laxity, Aganglionic megacolon, Failure to thrive in infancy, Hyperlord...	OMIM:162300
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Thrombocytopenia, Splenomegaly, Osteoporosis, Scoliosis, Anemia	OMIM:619525
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Cerebellar vermis hypoplasia, Small scrotum, Short neck, High palate, Bifid uvula, Pain insensiti...	OMIM:620330
Bietti Crystalline Corneoretinal Dystrophy	Chorioretinal atrophy, Retinal degeneration	OMIM:210370
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ...	ORPHA:567983
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Chorea, Xerostomia, Tubulointerstitial nephritis, Meningitis,...	ORPHA:289390
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Ataxia, Cerebral atrophy, Spasticity, Hypertonia, Myoclonus, Recurrent lower ...	OMIM:618426
Cone-Rod Dystrophy And Hearing Loss 1	Macular degeneration, Retinal atrophy	OMIM:617236
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Cornelia De Lange Syndrome 1	Ectopic kidney, High, narrow palate, Renal cyst, High palate, Gastroesophageal reflux, Vesicouret...	OMIM:122470
Intermediate Uveitis	Cataract, Macular scar, Band keratopathy, Tubulointerstitial nephritis, Posterior synechiae of th...	ORPHA:279914
Autosomal Dominant Optic Atrophy And Cataract	Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity...	ORPHA:67036
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Short stature, Depressed nasal bridge, Kyphosis, Inability to walk, Recurrent pneumonia, Optic at...	OMIM:618493
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Osteoporosis, Abnormal blood ion concentration, Anemia	ORPHA:79404
Oculoauricular Syndrome	Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste...	OMIM:612109
Cog1-Cdg	Irregularity of vertebral bodies, Cerebellar vermis hypoplasia, Rhizomelia, Kyphoscoliosis, Short...	ORPHA:263508
Retinitis Pigmentosa 37	Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration	OMIM:611131
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin...	OMIM:600802
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Short neck, Kyphosis, Hemivertebrae, Tracheoesophageal fistula,...	ORPHA:958
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl...	OMIM:256300
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Williams Syndrome	Hypoplasia of penis, Tremor, Rectal prolapse, Dysmetria, Abnormal form of the vertebral bodies, N...	ORPHA:904
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Mucolipidosis Type Ii	Hip contracture, Short stature, Craniosynostosis, Limited wrist movement, Postnatal growth retard...	ORPHA:576
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Decreased serum iron, Osteoporosis, Hip dysplasia, Scoliosis, Anemia	ORPHA:438213
Autosomal Recessive Spastic Paraplegia Type 44	Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Abnormality of soma...	ORPHA:320401
Rett Syndrome, Congenital Variant	Dystonia, Depressed nasal bridge, Kyphosis, Chorea, Delayed myelination, Bulbous nose, Athetosis,...	OMIM:613454
Glutaric Acidemia Type 3	Elevated circulating glutaric acid concentration, Failure to thrive, Abnormality of circulating e...	ORPHA:35706
Cleidocranial Dysplasia 1	Increased bone mineral density, Short stature, Delayed eruption of primary teeth, Kyphosis, Moder...	OMIM:119600
Feingold Syndrome 1	Accessory spleen, Epicanthus, Anteverted nares, Jejunal atresia, Asplenia, Esophageal atresia, Vo...	OMIM:164280
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, He...	ORPHA:100075
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Short neck, Flexion contracture, Irregular vertebral endplates, High palat...	OMIM:143095
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Inflamma...	OMIM:617718
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Aganglionic megacolon, Obesity, Narrow mouth	ORPHA:261222
Renal Cysts And Diabetes Syndrome	Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,...	OMIM:137920
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Sacral dimple, Long uvula, Kyphoscoliosis, Cryptorchidism, Kyphos...	ORPHA:536532
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Thanatophoric Dysplasia Type 1	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Lethal short-limb...	ORPHA:1860
Autosomal Recessive Malignant Osteopetrosis	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner...	ORPHA:667
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Malabsorption, Splenomegaly...	ORPHA:3260
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Carcinoid Syndrome	Small intestine carcinoid, Intestinal carcinoid, Chronic noninfectious lymphadenopathy, Hepatic n...	ORPHA:100093
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Craniosynostosis, Kyphosis, High, narrow palate, High pa...	OMIM:616914
Microphthalmia, Syndromic 5	Microcornea, Micropenis, Cataract, Optic nerve hypoplasia	OMIM:610125
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Intestin...	OMIM:249000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Aplasia of the epiglottis, Atriov...	OMIM:617088
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy...	OMIM:601346
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Elevated urinary catecholamine level, Aganglionic megacolon, Thyroid C cell hy...	ORPHA:653
Camurati-Engelmann Disease	Waddling gait, Hepatomegaly, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Splenomegaly, Optic a...	ORPHA:1328
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Esophageal Atresia	Barrett esophagus, Abnormal external genitalia, Ventricular septal defect, Intestinal malrotation...	ORPHA:1199
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Epicanthus, Delayed CNS myelination, Poor head control, Wide ...	OMIM:300896
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El...	ORPHA:97287
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Kyphosis, Cryptorchidism, Gait disturbance, Hypogonadism, Attention deficit hypera...	ORPHA:500055
Immunodeficiency 46	Meningitis, Recurrent sinopulmonary infections, Conjunctivitis, Chronic oral candidiasis	OMIM:616740
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Becker Nevus Syndrome	Supernumerary nipple, Kyphosis, Hypoplastic labia minora, Abnormality of the scrotum, Scoliosis, ...	ORPHA:64755
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp...	OMIM:619381
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Urethrovesical occlusion, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Epicanthus, Depressed nasal bridge, Exocrine pancreatic insufficiency, Elevat...	OMIM:618500
Kabuki Syndrome 1	Premature thelarche, High palate, Micropenis, Recurrent aspiration pneumonia, Abnormal vertebral ...	OMIM:147920
Stickler Syndrome	Osteoarthritis, Abnormal form of the vertebral bodies, Reduced bone mineral density, Glossoptosis...	ORPHA:828
Hermansky-Pudlak Syndrome	Abnormal dental enamel morphology, Epistaxis, Malabsorption, Ocular albinism, Weight loss, Abnorm...	ORPHA:79430
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Abnormal cartilage matrix	OMIM:245650
Lymphatic Malformation 6	Splenomegaly, Hydrocele testis, Gastroesophageal reflux, Atrial septal defect, Intestinal lymphan...	OMIM:616843
Townes-Brocks Syndrome 1	Bifid scrotum, Atrial septal defect, Renal insufficiency, Multicystic kidney dysplasia, Hypospadi...	OMIM:107480
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du...	OMIM:174900
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r...	ORPHA:95430
Hereditary Sensory And Autonomic Neuropathy Type 5	Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers, P...	ORPHA:64752
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Toe syndactyly, Reduced bone mineral density, Scoliosis, Short lower limbs	ORPHA:1556
Von Hippel-Lindau Disease	Back pain, Papilledema, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreati...	ORPHA:892
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Short stature, Ab...	ORPHA:534
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Short stature, ...	ORPHA:261265
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Cardiofacioneurodevelopmental Syndrome	Cerebellar vermis hypoplasia, Asplenia, Kyphosis, Cryptorchidism, Cleft palate, Upslanted palpebr...	OMIM:619123
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cleft palate, Cardiomegaly	ORPHA:158687
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus	ORPHA:2736
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Monosomy 9Q22.3	Epicanthus, Ovarian fibroma, Short neck, Kyphosis, Abnormality of the vertebral column, Chiari ma...	ORPHA:77301
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High palate, Renal artery stenos...	OMIM:617913
Metachromatic Leukodystrophy, Adult Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Neoplasm of the gallbladder, A...	ORPHA:309271
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Accessory spleen, Vertebral f...	OMIM:194190
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Immunodeficiency 66	Pustule, Meningitis, Recurrent skin infections	OMIM:618847
Short Syndrome	Ovarian cyst	OMIM:269880
Atelis Syndrome 2	Epicanthus, Sacral dimple, Prominent nose, Kyphosis, Bulbous nose, Dysmetria, High palate, Attent...	OMIM:620185
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Decreased number of large peripheral myelinated nerve fibers, Recurrent infection...	OMIM:223900
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, High, narrow palate, Tracheoesophageal fistula, Cleft palate...	ORPHA:2879
46,Xy Partial Gonadal Dysgenesis	Osteoporosis	ORPHA:251510
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Downtur...	OMIM:619557
Alveolar Echinococcosis	Low back pain, Liver abscess, Ataxia, Cholangitis, Portal hypertension, Pancreatic cysts, Abnorma...	ORPHA:284
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut...	ORPHA:293173
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Kawasaki Disease	Glossitis, Pericarditis, Proteinuria, Abnormal heart valve morphology, Myocarditis, Leukocytosis,...	ORPHA:2331
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, High palate, Pelvic kidney, Short stature, A...	OMIM:619522
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Coxa valga, Osteoarthr...	ORPHA:740
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Short stature, Anteverted nares, Highly arched eyebrow, Short n...	ORPHA:2282
Cdags Syndrome	Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, L...	OMIM:603116
Degcags Syndrome	Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, High p...	OMIM:619488
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility, Hypokalemia	ORPHA:286
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Crimean-Congo Hemorrhagic Fever	Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocytosis, Epidid...	ORPHA:99827
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Microcolon	ORPHA:163746
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Painless fractures due to injury	OMIM:201300
Angiostrongyliasis	Distal muscle weakness, Unusual CNS infection, Paresthesia, Hyperesthesia, Meningitis, Muscle wea...	ORPHA:74
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Meningitis, Recurrent sinusitis	OMIM:619707
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Cardiomegaly, Acanthocytosis, Hepatic fibrosis, Cirrhosis, Steator...	ORPHA:14
Mend Syndrome	Telecanthus, Sacral dimple, Short stature, Prominent nasal bridge, Kyphosis, Cryptorchidism, Clef...	ORPHA:401973
Trichinellosis	Skin rash, Facial palsy, Confusion, Ophthalmoplegia, Babinski sign, Hemiparesis, Conjunctivitis, ...	ORPHA:863
Mend Syndrome	Sacral dimple, Short stature, Prominent nasal bridge, Kyphosis, Cryptorchidism, Bulbous nose, Ups...	OMIM:300960
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Hallux valgus, Down-sloping shoulders, Kyphoscoliosis, Hypercalcemia, F...	OMIM:194050
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla...	OMIM:269150
Mosaic Trisomy 20	Vertebral fusion, Cryptorchidism, Kyphosis, Cleft lip, Spinal canal stenosis, Cleft palate, Fused...	ORPHA:1724
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Tarsal synostosis, Kyphosis, Cleft...	ORPHA:85199
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retarda...	OMIM:309000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal...	OMIM:265380
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ...	ORPHA:79431
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios...	OMIM:266270
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Holoprosencephaly 14	Cerebellar atrophy, Anteverted nares, Proboscis, Partial agenesis of the corpus callosum, Partial...	OMIM:619895
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal punctum, Highly arched eyebrow...	ORPHA:572333
Neurofibromatosis Type 1	Astrocytoma, Ataxia, Short stature, Abnormal eyelid morphology, Precocious puberty, Kyphosis, Cry...	ORPHA:636
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,...	OMIM:312870
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Cleft hard palate, C...	ORPHA:261537
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ge...	ORPHA:91351
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move...	OMIM:203500
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Thrombocytopen...	ORPHA:2072
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Cleft hard palate, C...	ORPHA:261552
Metachromatic Leukodystrophy, Late Infantile Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormality of visual evoked p...	ORPHA:309256
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Labial pseudohypertrophy, Polycystic ovaries, Hepatic steatosis	OMIM:151660
Shprintzen Omphalocele Syndrome	Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Flared nostrils, Wide nasal bridge, Sh...	OMIM:182210
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Optic nerve hypoplasia, Cerebellar hypoplasia, Severe intrauterine...	OMIM:609069
Fusariosis	Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,...	ORPHA:228119
Metachromatic Leukodystrophy, Juvenile Form	Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Abnormality of visual evoked p...	ORPHA:309263
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Cone-Rod Dystrophy 6	Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ...	OMIM:601777
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
Friedreich Ataxia	Abnormality of visual evoked potentials, Decreased sensory nerve conduction velocity, Optic atrop...	OMIM:229300
Johanson-Blizzard Syndrome	Anteriorly placed anus, Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospa...	OMIM:243800
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy	OMIM:125310
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,...	OMIM:557000
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, High, narrow palate, Pylori...	ORPHA:3472
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur...	ORPHA:2821
Mowat-Wilson Syndrome	Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Asplenia, Cleft hard palate, V...	ORPHA:2152
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Lymphadenop...	OMIM:256040
Gaisböck Syndrome	Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis...	ORPHA:90041
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Aspartylglucosaminuria, Acne, Short stature, Ante...	OMIM:208400
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ...	ORPHA:47159
Arachnoiditis	Meningitis, Urinary bladder sphincter dysfunction, Paresthesia, Muscle weakness	ORPHA:137817
Aicardi-Goutières Syndrome	Cardiomegaly, Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Entropion, Hypospadias, Prominent nasal bridge, Trichiasis, Sparse eyebrow, Kyphosis, High palate...	OMIM:609944
Acromegaly	Wide nose, Cerebral palsy, Palpebral edema, Acne, Elevated circulating growth hormone concentrati...	ORPHA:963
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Branchiooculofacial Syndrome	Short neck, Renal cyst, Agenesis of cerebellar vermis, Depressed nasal bridge, Facial palsy, Hypo...	OMIM:113620
Marfanoid Habitus With Situs Inversus	Kyphosis, Hyperextensibility of the finger joints, Scoliosis	OMIM:609008
Heterotaxy, Visceral, 5, Autosomal	Cerebellar atrophy, Absence of the sacrum, Ureteral duplication, Ureteral stenosis, Intestinal ma...	OMIM:270100
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cryptorchidism, Pyloric stenosis, Midgut malrotation, Cleft palate, Micropenis	OMIM:263750
Moderate Hemophilia A	Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Gingival bleedin...	ORPHA:169805
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Limb-Mammary Syndrome	Absent nipple, Cleft hard palate, Cleft palate, Bilateral breast hypoplasia, Breast aplasia, Hypo...	ORPHA:69085
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Scoliosis, Joint hypermobility	OMIM:617821
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc...	ORPHA:79403
Late-Infantile/Juvenile Krabbe Disease	Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnormality ...	ORPHA:206443
Wrinkly Skin Syndrome	Delayed eruption of teeth, Osteopenia, Short stature, Joint hypermobility, Carious teeth, Cryptor...	OMIM:278250
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Cachexia, Kyphosis, Scoliosis, Short hard palate	ORPHA:1969
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Lambert-Eaton Myasthenic Syndrome	Progressive proximal muscle weakness, Xerostomia, Abnormality of the orbital region, Keratoconjun...	ORPHA:43393
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, ...	OMIM:201750
Cushing Syndrome Due To Ectopic Acth Secretion	Leukocytosis, Osteoporosis, Decreased eosinophil count, Vertebral compression fracture, Lymphopenia	ORPHA:99889
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Ventricular septal defect, Anterior pituitary hypopla...	OMIM:181450
Hydranencephaly	Optic nerve hypoplasia, Postnatal growth retardation, Spastic diplegia, Opisthotonus, Intrauterin...	ORPHA:2177
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Neurodegeneration With Brain Iron Accumulation 1	Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral degeneration, Retinal degenera...	OMIM:234200
Cono-Spondylar Dysplasia	Anteverted nares, Short neck, Kyphosis, Partial agenesis of the corpus callosum, Poor coordinatio...	ORPHA:420794
Chromosome Xq26.3 Duplication Syndrome	Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Widely spaced tee...	OMIM:300942
Achalasia-Addisonianism-Alacrima Syndrome	Abnormality of visual evoked potentials, Orthostatic hypotension, Optic atrophy, Abnormal autonom...	OMIM:231550
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Conjunctivitis, Ot...	ORPHA:2968
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Inflammation of the large ...	OMIM:106300
Holt-Oram Syndrome	Kyphosis, Radioulnar synostosis, Scoliosis, Joint stiffness	ORPHA:392
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal external genita...	ORPHA:90794
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Reticulocytosis, Renal insufficiency, Lymphopenia, Per...	ORPHA:99826
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Knee flexion contracture	OMIM:603387
Sotos Syndrome	Ureteral duplication, Astrocytoma, Cerebellar vermis hypoplasia, Tremor, Vesicoureteral reflux, C...	ORPHA:821
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Epididymal c...	OMIM:193300
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestas...	OMIM:267010
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Aplasia Cutis-Myopia Syndrome	Meningitis	ORPHA:1117
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Depressed nasal bridge, Pancreatic fibrosis, Short stature	OMIM:615503
Shwachman-Diamond Syndrome 2	Hepatomegaly, Short stature, Steatorrhea, Recurrent infections, High palate, Hyperechogenic pancr...	OMIM:617941
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Coffin-Lowry Syndrome	Telecanthus, Wide nose, Short stature, Anteverted nares, Highly arched eyebrow, Kyphosis, Rectal ...	OMIM:303600
Sheehan Syndrome	Dyspareunia, Chronic lymphocytic meningitis, Decreased female libido, Reduced circulating prolact...	ORPHA:91355
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Decreased number of small peripheral myelinated nerve fibers, Pain insensitivity, Oste...	OMIM:256800
Somatomammotropinoma	Wide nose, Cerebral palsy, Palpebral edema, Dysmenorrhea, Elevated circulating growth hormone con...	ORPHA:314769
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Abnormality of the dentition, Abnormality of circulating enzyme level,...	ORPHA:93598
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis...	OMIM:613471
Pmm2-Cdg	Osteopenia, Joint laxity, Multiple joint contractures, Kyphoscoliosis, Long fingers, Reduced thyr...	ORPHA:79318
Granulomatosis With Polyangiitis	Recurrent respiratory infections, Pericarditis, Sinusitis, Skin rash, Increased inflammatory resp...	ORPHA:900
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, High palate, Supernumerary nipple, Bifid uterus	ORPHA:1521
Viss Syndrome	Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage...	OMIM:619472
Rat-Bite Fever	Back pain, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pus...	ORPHA:31205
Alström Syndrome	Thoracic scoliosis, Decreased response to growth hormone stimulation test, Urinary incontinence, ...	ORPHA:64
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Sepsis In Premature Infants	Hepatomegaly, Disseminated viral infection, Splenomegaly, Severe infection, Jaundice, Enterocolit...	ORPHA:90051
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto...	ORPHA:649
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Familial Thoracic Aortic Aneurysm And Aortic Dissection	High, narrow palate, Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Cherubism	Narrow palate, Submandibular lymph node enlargement	OMIM:118400
Reactive Arthritis	Osteomyelitis, Joint stiffness, Cartilage destruction, Enthesitis, Weight loss, Arthritis, Inflam...	ORPHA:29207
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis	ORPHA:457284
Cerebrocostomandibular Syndrome	Short stature, Kyphosis, Cleft palate, Glossoptosis, Tracheomalacia, Intrauterine growth retardat...	ORPHA:1393
Cutis Laxa, Autosomal Recessive, Type Iic	Bilateral cryptorchidism, Pyloric stenosis, Mitral valve prolapse, Nephrocalcinosis, Biventricula...	OMIM:617402
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Recurrent infection of the gastrointestinal tract, Hep...	OMIM:612132
Plague	Hepatomegaly, Hematemesis, Splenomegaly, Lymphadenitis, Enterocolitis, Endocarditis, Enlarged mes...	ORPHA:707
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron...	ORPHA:158684
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Lymphedema-Distichiasis Syndrome	Ptosis, Kyphosis, Cleft palate, Conjunctivitis, Webbed neck, Distichiasis, Ectropion	OMIM:153400
Alport Syndrome	Macular degeneration, Retinal flecks, Clitoral hypertrophy	ORPHA:63
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract	ORPHA:637
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati...	OMIM:609441
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Increased circulating gonadotropin level, High palate	OMIM:110100
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Cryptorchidi...	ORPHA:709
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute k...	ORPHA:509
Wiskott-Aldrich Syndrome	Recurrent respiratory infections, Sinusitis, Eczema, Epistaxis, Abnormality of the menstrual cycl...	ORPHA:906
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Anuria, Pneumonia, Nephrotic range proteinuria, Intestinal perforation, Myocarditi...	ORPHA:544482
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ...	ORPHA:3464
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Cerebellar atrophy, Dystonia, Babinski sign, Hemiparesis, Peripapillary atrophy, Tetraparesis, Li...	OMIM:175780
Neuroocular Syndrome	Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ...	OMIM:619539
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin...	OMIM:130050
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, Anterior concavity of thoracic vertebrae, High palate, Aspiration p...	OMIM:216340
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Splenomegaly, Jaundice, My...	ORPHA:3385
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Cleft palate, Transposition of the great...	OMIM:256520
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Ventricular se...	OMIM:261540
Microphthalmia, Syndromic 2	Retinal detachment, Hypospadias, Remnants of the hyaloid vascular system, Developmental cataract,...	OMIM:300166
Woodhouse-Sakati Syndrome	Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ...	OMIM:241080
Immunodeficiency 68	Lymphadenitis, Recurrent skin infections, Septic arthritis, Recurrent meningitis	OMIM:612260
Pancreatitis, Hereditary	Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i...	OMIM:167800
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica...	ORPHA:51608
Mowat-Wilson Syndrome	Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Aganglionic megacolo...	OMIM:235730
Pallister-Killian Syndrome	Anal stenosis, Small scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Intes...	OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p...	OMIM:276820
Spondyloepimetaphyseal Dysplasia, X-Linked	Joint laxity, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionat...	OMIM:300106
Loeys-Dietz Syndrome	High palate, Bifid uvula, Uterine rupture	ORPHA:60030
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Kyphosis, Difficulty walking, Scoliosis, Aspiration pneumonia	OMIM:619482
Sacral Defect With Anterior Meningocele	Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Rectal abscess, Urinary retenti...	OMIM:600145
Wiskott-Aldrich Syndrome	Recurrent herpes, Eczema, Epistaxis, Recurrent upper respiratory tract infections, Recurrent pneu...	OMIM:301000
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Hypospadias, Aganglionic megacolon, Cryptorchidism, High, nar...	OMIM:309800
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Iris coloboma	OMIM:157170

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 Gnptab

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Gnptab.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Human GNPTAB stuttering mutations engineered into mice cause vocalization deficits and astrocyte pathology in the corpus callosum.	Proceedings of the National Academy of Sciences of the United States of America (August 2019)	Gnptab^{tm1a(EUCOMM)Wtsi}	31405983

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MGI Allele	Allele Type	Produced
Gnptab^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Gnptab^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gnptab MGI:3643902

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E18.5

X-ray

MicroCT E18.5

X-ray

Human diseases caused by Gnptab mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data