Phenotype: Paraplegia (HP:0010550)
Associated genes and diseases:
gene_symbol: LAMB1
disease_id: OMIM:615191
disease_name: LISSENCEPHALY 5
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: PEX3
disease_id: OMIM:617370
disease_name: PEROXISOME BIOGENESIS DISORDER 10B
gene_symbol: CPT1C
disease_id: OMIM:616282
disease_name: SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT
gene_symbol: RNASEH2B
disease_id: OMIM:610181
disease_name: AICARDI-GOUTIERES SYNDROME 2
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: NIPA1
disease_id: ORPHA:100988
disease_name: Autosomal dominant spastic paraplegia type 6
SPG6
gene_symbol: NIPA1
disease_id: OMIM:600363
disease_name: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
gene_symbol: DDHD1
disease_id: OMIM:609340
disease_name: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE
gene_symbol: ASCC3
disease_id: OMIM:620700
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: AIFM1
disease_id: ORPHA:83629
disease_name: Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
H-SMD
Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-SEMD syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: RNF170
disease_id: OMIM:619686
disease_name: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE
gene_symbol: PNPLA6
disease_id: ORPHA:139480
disease_name: Autosomal recessive spastic paraplegia type 39
SPG39
Spastic paraplegia due to NTE mutation
Spastic paraplegia due to neuropathy target esterase mutation
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: PNPLA6
disease_id: OMIM:245800
disease_name: LAURENCE-MOON SYNDROME
gene_symbol: RNF220
disease_id: OMIM:619688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
gene_symbol: ATP5MC3
disease_id: OMIM:619681
disease_name: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA
gene_symbol: IBA57
disease_id: OMIM:616451
disease_name: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
gene_symbol: AP4E1
disease_id: OMIM:613744
disease_name: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
gene_symbol: KIF1A
disease_id: OMIM:610357
disease_name: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
gene_symbol: SLC33A1
disease_id: OMIM:612539
disease_name: SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT
gene_symbol: PAX3
disease_id: ORPHA:896
disease_name: Waardenburg syndrome type 3
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies
gene_symbol: PAX3
disease_id: OMIM:148820
disease_name: WAARDENBURG SYNDROME, TYPE 3
gene_symbol: SLC25A15
disease_id: ORPHA:415
disease_name: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
HHH syndrome
ORNT1 deficiency
Ornithine carrier deficiency
Ornithine translocase deficiency
Triple H syndrome
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: DSTYK
disease_id: ORPHA:101003
disease_name: Autosomal recessive spastic paraplegia type 23
Lison syndrome
SPG23
Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: OPA1
disease_id: ORPHA:1215
disease_name: Autosomal dominant optic atrophy plus syndrome
ADOA+
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
gene_symbol: TFG
disease_id: ORPHA:431329
disease_name: Autosomal recessive spastic paraplegia type 57
SPG57
Spastic paraplegia due to partial TFG deficiency
gene_symbol: TFG
disease_id: OMIM:615658
disease_name: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: ALDH18A1
disease_id: OMIM:616586
disease_name: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: ABHD16A
disease_id: OMIM:619735
disease_name: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: VAMP1
disease_id: OMIM:108600
disease_name: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT
gene_symbol: VAMP1
disease_id: ORPHA:251282
disease_name: Autosomal dominant spastic ataxia type 1
SPAX1
gene_symbol: ATRX
disease_id: ORPHA:847
disease_name: X-linked alpha-thalassemia-intellectual disability syndrome
ATR-X syndrome
gene_symbol: SLC2A1
disease_id: OMIM:601042
disease_name: DYSTONIA 9
gene_symbol: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: SLC2A1
disease_id: ORPHA:53583
disease_name: Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
DYT9
Episodic choreoathetosis/spasticity
gene_symbol: ATP13A2
disease_id: OMIM:606693
disease_name: KUFOR-RAKEB SYNDROME
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: ABCA12
disease_id: OMIM:601277
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
gene_symbol: GBE1
disease_id: OMIM:263570
disease_name: POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: WDR48
disease_id: ORPHA:401800
disease_name: Autosomal recessive spastic paraplegia type 60
SPG60
gene_symbol: ABCD1
disease_id: OMIM:300100
disease_name: ADRENOLEUKODYSTROPHY
gene_symbol: PI4KA
disease_id: OMIM:619621
disease_name: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: FARS2
disease_id: OMIM:617046
disease_name: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
gene_symbol: REEP1
disease_id: OMIM:610250
disease_name: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
gene_symbol: UBAP1
disease_id: OMIM:618418
disease_name: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
gene_symbol: ERLIN2
disease_id: OMIM:611225
disease_name: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: WASHC5
disease_id: OMIM:603563
disease_name: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
gene_symbol: CYP2U1
disease_id: OMIM:615030
disease_name: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
gene_symbol: CYP2U1
disease_id: ORPHA:320411
disease_name: Autosomal recessive spastic paraplegia type 56
SPG56
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: KIDINS220
disease_id: OMIM:617296
disease_name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
gene_symbol: AP4B1
disease_id: OMIM:614066
disease_name: SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
gene_symbol: MTRFR
disease_id: OMIM:615035
disease_name: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
gene_symbol: AP4S1
disease_id: OMIM:614067
disease_name: SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
gene_symbol: STXBP1
disease_id: OMIM:612164
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4
gene_symbol: DDHD2
disease_id: OMIM:615033
disease_name: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
gene_symbol: DDHD2
disease_id: ORPHA:320380
disease_name: Autosomal recessive spastic paraplegia type 54
SPG54
gene_symbol: CCT5
disease_id: ORPHA:139578
disease_name: Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating HSAN with spastic paraplegia
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
gene_symbol: WDR45B
disease_id: OMIM:617977
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES
gene_symbol: KLC2
disease_id: OMIM:609541
disease_name: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY
gene_symbol: PDHX
disease_id: OMIM:245349
disease_name: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
gene_symbol: NT5C2
disease_id: ORPHA:320396
disease_name: Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 65
SPG45
SPG65
gene_symbol: NT5C2
disease_id: OMIM:613162
disease_name: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
gene_symbol: SETX
disease_id: ORPHA:357043
disease_name: Amyotrophic lateral sclerosis type 4
ALS4
Distal hereditary motor neuropathy with upper motor neuron signs
dHMN with upper motor neuron signs
gene_symbol: ENTPD1
disease_id: OMIM:615683
disease_name: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE
gene_symbol: C19orf12
disease_id: OMIM:615043
disease_name: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
gene_symbol: RTN2
disease_id: OMIM:604805
disease_name: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT
gene_symbol: ARL6IP1
disease_id: OMIM:615685
disease_name: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
gene_symbol: AMPD2
disease_id: OMIM:615686
disease_name: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: USP8
disease_id: ORPHA:401795
disease_name: Autosomal recessive spastic paraplegia type 59
SPG59
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: PLP1
disease_id: OMIM:312920
disease_name: SPASTIC PARAPLEGIA 2, X-LINKED
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
gene_symbol: MAG
disease_id: ORPHA:459056
disease_name: Autosomal recessive spastic paraplegia type 75
SPG75
gene_symbol: HSPD1
disease_id: OMIM:605280
disease_name: SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT
gene_symbol: HSPD1
disease_id: ORPHA:100994
disease_name: Autosomal dominant spastic paraplegia type 13
SPG13
gene_symbol: HSPD1
disease_id: OMIM:612233
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 4
gene_symbol: ALS2
disease_id: ORPHA:293168
disease_name: Infantile-onset ascending hereditary spastic paralysis
IAHSP
gene_symbol: ALS2
disease_id: OMIM:607225
disease_name: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
gene_symbol: VCP
disease_id: ORPHA:329475
disease_name: Spastic paraplegia-Paget disease of bone syndrome
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: BSCL2
disease_id: OMIM:270685
disease_name: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: HPDL
disease_id: OMIM:619027
disease_name: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE
gene_symbol: GPT2
disease_id: ORPHA:477673
disease_name: Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
gene_symbol: INTS8
disease_id: OMIM:618572
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: REEP2
disease_id: OMIM:615625
disease_name: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: AMFR
disease_id: OMIM:620379
disease_name: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE
gene_symbol: VPS37A
disease_id: OMIM:614898
disease_name: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
gene_symbol: RAP1GDS1
disease_id: OMIM:620655
disease_name: ALFADHEL SYNDROME
gene_symbol: KIF5A
disease_id: OMIM:604187
disease_name: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
gene_symbol: RAB3GAP2
disease_id: ORPHA:401830
disease_name: Autosomal recessive spastic paraplegia type 69
SPG69
gene_symbol: SELENOI
disease_id: ORPHA:506353
disease_name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 81
gene_symbol: AP4M1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: FLRT1
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: ARSI
disease_id: ORPHA:401815
disease_name: Autosomal recessive spastic paraplegia type 66
SPG66
gene_symbol: MARS1
disease_id: ORPHA:401835
disease_name: Autosomal recessive spastic paraplegia type 70
SPG70
gene_symbol: KY
disease_id: ORPHA:496689
disease_name: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Kyphoscoliosis-lateral tongue atrophy-HSP syndrome
gene_symbol: ZFR
disease_id: ORPHA:401840
disease_name: Autosomal recessive spastic paraplegia type 71
SPG71
gene_symbol: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: PGAP1
disease_id: ORPHA:401820
disease_name: Autosomal recessive spastic paraplegia type 67
SPG67
gene_symbol: KPNA3
disease_id: ORPHA:171612
disease_name: Autosomal dominant spastic paraplegia type 37
SPG37
gene_symbol: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: SPAST
disease_id: OMIM:182601
disease_name: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT
gene_symbol: ATL1
disease_id: OMIM:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: ZFYVE26
disease_id: OMIM:270700
disease_name: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
gene_symbol: L1CAM
disease_id: OMIM:303350
disease_name: MASA SYNDROME
gene_symbol: PAH
disease_id: ORPHA:79254
disease_name: Classic phenylketonuria
Classic PKU
gene_symbol: CKAP2L
disease_id: ORPHA:3255
disease_name: Filippi syndrome
Type 1 syndactyly-microcephaly-intellectual disability syndrome
gene_symbol: FGFR1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3A
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPRY4
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FLRT3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROKR2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NDNF
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF8
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FEZF1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DCC
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: ANOS1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: IL17RD
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SOX10
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CCDC141
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROK2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CHD7
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DUSP6
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TACR3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: WDR11
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HS6ST1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HESX1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF17
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES